V35M (p.Val35Met) variant of KRT5 (Keratin, type II cytoskeletal 5)
V35M (p.Val35Met) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.26 / 1. The record also includes population frequency data and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- rs374017172
- 1000Genomes rs374017172
- ESP rs374017172
- ExAC rs374017172
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available