V12A (p.Val12Ala) variant of KRT8 (Keratin, type II cytoskeletal 8)
V12A (p.Val12Ala) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD rs1389976717
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available