S62R (p.Ser62Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
S62R (p.Ser62Arg) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- ExAC rs745773711
- gnomAD rs745773711
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.27
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.001)
- Structural context available