R47P (p.Arg47Pro) variant of KRT8 (Keratin, type II cytoskeletal 8)
R47P (p.Arg47Pro) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R47P (p.Arg47Pro) variant details
- p.Arg47Pro
- ExAC rs775896565
- gnomAD rs775896565
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)