G62V (p.Gly62Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
G62V (p.Gly62Val) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G62V (p.Gly62Val) variant details
- p.Gly62Val
- ExAC rs756652267
- gnomAD rs756652267
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.46
- CADD 17.90
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available