R18W (p.Arg18Trp) variant of KRT8 (Keratin, type II cytoskeletal 8)
R18W (p.Arg18Trp) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- 1000Genomes rs11554484
- ExAC rs11554484
- TOPMed rs11554484
- gnomAD rs11554484
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available