A48V (p.Ala48Val) variant of CHM (P24386)
A48V (p.Ala48Val) 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 0.83 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.91
- MetaLR 0.85
- MetaSVM 0.93
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available