G76A (p.Gly76Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
G76A (p.Gly76Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G76A (p.Gly76Ala) variant details
- p.Gly76Ala
- ExAC rs753941027
- gnomAD rs753941027
- Missense
- Variant Prioritization Score for Impact Estimate 0.0965
- REVEL 0.02
- CADD 8.01
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available