V64A (p.Val64Ala) variant of KRT2 (P35908)
V64A (p.Val64Ala) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- gnomAD rs1271102595
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.28
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available