A35V (p.Ala35Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
A35V (p.Ala35Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- gnomAD rs1411984667
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available