R110Q (p.Arg110Gln) variant of KRT8 (Keratin, type II cytoskeletal 8)
R110Q (p.Arg110Gln) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- ExAC rs750588420
- TOPMed rs750588420
- gnomAD rs750588420
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00041)