A39V (p.Ala39Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
A39V (p.Ala39Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD rs1195793164
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.14
- CADD 12.10
- PolyPhen-2 0.12
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available