V76M (p.Val76Met) variant of KRT2 (P35908)
V76M (p.Val76Met) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- Ensembl rs1941258851
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.23
- SIFT 0.19
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available