R18L (p.Arg18Leu) variant of KRT8 (Keratin, type II cytoskeletal 8)
R18L (p.Arg18Leu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- ExAC rs755636595
- TOPMed rs755636595
- gnomAD rs755636595
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available