R59C (p.Arg59Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
R59C (p.Arg59Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- ExAC rs747867129
- TOPMed rs747867129
- gnomAD rs747867129
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.35
- CADD 15.70
- PolyPhen-2 0.25
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available