G51V (p.Gly51Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
G51V (p.Gly51Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- ExAC rs747524509
- gnomAD rs747524509
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 19.70
- PolyPhen-2 0.70
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00031)