G10S (p.Gly10Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
G10S (p.Gly10Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- ExAC rs777130445
- gnomAD rs777130445
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- CADD 9.94
- PolyPhen-2 0.07
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available