G53V (p.Gly53Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G53V (p.Gly53Val) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.55 / 1. The record also includes population frequency data and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- NCI-TCGA Cosmic COSV5810
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.58
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available