G51S (p.Gly51Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
G51S (p.Gly51Ser) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- ExAC rs200996175
- gnomAD rs200996175
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 15.40
- PolyPhen-2 0.12
- SIFT 0.12
- Most common in the HGDP:YAKUT population (allele frequency 0.04)