Y42C (p.Tyr42Cys) variant of CHM (P24386)
Y42C (p.Tyr42Cys) in CHM (P24386) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.86
- MetaLR 0.85
- MetaSVM 0.87
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available