A22G (p.Ala22Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
A22G (p.Ala22Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- ESP rs374462183
- ExAC rs374462183
- TOPMed rs374462183
- gnomAD rs374462183
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.44
- CADD 28.20
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available