R59C (p.Arg59Cys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R59C (p.Arg59Cys) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- ESP rs370887221
- ExAC rs370887221
- TOPMed rs370887221
- gnomAD rs370887221
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available