R18G (p.Arg18Gly) variant of KRT8 (Keratin, type II cytoskeletal 8)
R18G (p.Arg18Gly) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- 1000Genomes rs11554484
- ExAC rs11554484
- TOPMed rs11554484
- gnomAD rs11554484
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available