C125Y (p.Cys125Tyr) variant of COMP (P49747)
C125Y (p.Cys125Tyr) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C125Y (p.Cys125Tyr) variant details
- p.Cys125Tyr
- rs2512854226
- ClinGen CA404898244
- ClinVar RCV003669889
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available