G43E (p.Gly43Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
G43E (p.Gly43Glu) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- Ensembl rs1597794890
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.42
- CADD 21.20
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available