V32A (p.Val32Ala) variant of KRT3 (Keratin, type II cytoskeletal 3)
V32A (p.Val32Ala) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- ExAC rs779168086
- gnomAD rs779168086
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.28
- CADD 9.69
- PolyPhen-2 0.43
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available