CADD-like Combined Deleteriousness Score Threshold Gate Checker

Screen a caller-supplied CADD-like score and threshold; does not calculate CADD or infer pathogenicity.

Description

Screen a caller-supplied CADD-like score and threshold; does not calculate CADD or infer pathogenicity.

A score threshold can screen a prediction without proving that a variant causes disease. Keeping a signed margin alongside the pass flag exposes how far it lies from the supplied boundary.

When to use this tool

Screen a caller-supplied CADD-like score and threshold; does not calculate CADD or infer pathogenicity.

  • Prepare the supplied score, callerThreshold fields for this operation.
  • Compare the complete example with the representation used by your own input before carrying the result into another step.

How to use the tool and how it works

  1. Enter score, callerThreshold. Use the exact text syntax, units and index conventions explained below.
  2. Run the tool. If input validation fails, correct the supplied fields before interpreting any result.
  3. Read result.signedMargin, result.atOrAboveThreshold, result.pathogenicityEstablished. Interpret false, null and empty lists using the distinctions below; they can be valid outputs.

Return score-callerThreshold and whether score is at least callerThreshold. Always return pathogenicityEstablished false.1

Input fieldMeaning and representationAccepted input
scorescore.Finite number
callerThresholdcaller threshold.Finite number
Output fieldInterpretation
resultObject containing the named outputs below.
result.signedMarginThe signed margin value under the stated formula or text convention.
result.atOrAboveThresholdFlag for at or above threshold under the exact condition described above.
result.pathogenicityEstablishedAlways false: a numerical score gate does not establish clinical pathogenicity.
json
{
  "input": {
    "score": 20,
    "callerThreshold": 15
  },
  "output": {
    "result": {
      "signedMargin": 5,
      "atOrAboveThreshold": true,
      "pathogenicityEstablished": false
    }
  }
}

Limitations and assumptions

  • The tool does not identify the scoring system, justify the threshold or combine clinical evidence. Equality passes, and arbitrary finite scores are not automatically comparable across models.
  • Every declared top-level field is required and unexpected fields are rejected. Numeric inputs must be finite; ordinary text fields are bounded to 8,192 UTF-16 code units, with tighter operation-specific limits where stated.
  • Ordinary string lists have at most 128 entries of at most 128 code units each; numeric lists and matrices have separate bounded size checks. Nonfinite results and excessively large serialized outputs are rejected.
  • Indexes are zero-based and spans have an exclusive end unless explicitly stated otherwise. A valid false, null or empty-list result is distinct from malformed input.

Alternative or Complementary methods

Retain the reference assembly, accession/version and measurement convention with an analysis. Length summaries, flags and lookup notes do not validate an assembly or classify a variant; use the corresponding sequence, alignment or evidence-review workflow.

References

  1. Tool behavior and example: CADD-like Combined Deleteriousness Score Threshold Gate Checker — tool.io

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