G36V (p.Gly36Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
G36V (p.Gly36Val) in KRT17 (Keratin, type I cytoskeletal 17) 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.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- ExAC rs755266373
- TOPMed rs755266373
- gnomAD rs755266373
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.46
- CADD 19.20
- PolyPhen-2 0.44
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available