V38M (p.Val38Met) variant of KRT6A (Keratin, type II cytoskeletal 6A)
V38M (p.Val38Met) 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 0.30 / 1. The record also includes population frequency data and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs757013535
- ExAC rs757013535
- TOPMed rs757013535
- gnomAD rs757013535
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.21
- CADD 16.30
- PolyPhen-2 0.12
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available