A132V (p.Ala132Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
A132V (p.Ala132Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- ExAC rs764490389
- gnomAD rs764490389
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 22.50
- PolyPhen-2 0.79
- SIFT 0.31
- Most common in the HGDP:FRENCH population (allele frequency 0.019)