R59C (p.Arg59Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R59C (p.Arg59Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- TOPMed rs1386817536
- gnomAD rs1386817536
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.32
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available