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varcadd-pathogenicity
Maintainer FreedomIntelligence · Last updated April 1, 2026
VARCADD pathogenicity scoring for coding variants from structure and evolution.
Original source
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/varcadd-pathogenicity
- Maintainer
- FreedomIntelligence
- License
- MIT
- Last updated
- April 1, 2026
Skill Snapshot
Key Details From SKILL.md
Key Notes
- Genome-wide pathogenicity prediction leveraging standing variation data to improve accuracy over traditional CADD scores.
- Variant Prioritization: Ranking candidate variants in rare disease cases.
- VUS Interpretation: Assessing variants of uncertain significance.
- Research: Annotating novel variants in population studies.
- Variant Prioritization: Ranking candidate variants in rare disease cases. VUS Interpretation: Assessing variants of uncertain significance. * Research: Annotating novel variants in population studies.
Source Doc
Excerpt From SKILL.md
Core Capabilities
- Score Generation: Calculate C-scores for SNVs and indels.
- Annotation: Add functional context (conservation, protein domains).
- Filtering: Identify likely pathogenic variants based on thresholds.
Workflow
- Input: VCF file.
- Annotate: Run varCADD model.
- Filter: Keep variants with Score > X.
- Output: Annotated VCF or ranked table.
Example Usage
User: "Score these variants from patient X."
Agent Action:
Use cases
- Use varcadd-pathogenicity for medicinal chemistry and drug-discovery work.
- Apply varcadd-pathogenicity to compound, target, or screening workflows.
Not for
- Do not rely on this catalog entry alone for installation or maintenance details.
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