R32C (p.Arg32Cys) variant of KRT8 (Keratin, type II cytoskeletal 8)
R32C (p.Arg32Cys) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- ExAC rs747471242
- gnomAD rs747471242
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available