R26C (p.Arg26Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
R26C (p.Arg26Cys) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- 1000Genomes rs374384105
- ESP rs374384105
- ExAC rs374384105
- TOPMed rs374384105
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.17
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available