C151Y (p.Cys151Tyr) variant of COMP (P49747)
C151Y (p.Cys151Tyr) 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 0.93 / 1. The record also includes structural context.
C151Y (p.Cys151Tyr) variant details
- p.Cys151Tyr
- rs2055192723
- ClinGen CA404896433
- cosmic curated COSV55876
- ClinVar RCV003145856
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available