R6H (p.Arg6His) variant of KRT17 (Keratin, type I cytoskeletal 17)
R6H (p.Arg6His) in KRT17 (Keratin, type I cytoskeletal 17) 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.
R6H (p.Arg6His) variant details
- p.Arg6His
- ExAC rs768150902
- TOPMed rs768150902
- gnomAD rs768150902
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.33
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available