R47S (p.Arg47Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
R47S (p.Arg47Ser) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- ExAC rs762840989
- TOPMed rs762840989
- gnomAD rs762840989
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.45
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)