R18Q (p.Arg18Gln) variant of KRT8 (Keratin, type II cytoskeletal 8)
R18Q (p.Arg18Gln) 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.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- ExAC rs755636595
- TOPMed rs755636595
- gnomAD rs755636595
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available