G113D (p.Gly113Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G113D (p.Gly113Asp) 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.
G113D (p.Gly113Asp) variant details
- p.Gly113Asp
- TOPMed rs936910564
- gnomAD rs936910564
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.39
- CADD 17.00
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available