G47V (p.Gly47Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
G47V (p.Gly47Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- ExAC rs759301828
- gnomAD rs759301828
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.50
- CADD 17.40
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available