R110L (p.Arg110Leu) variant of KRT8 (Keratin, type II cytoskeletal 8)
R110L (p.Arg110Leu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
R110L (p.Arg110Leu) variant details
- p.Arg110Leu
- ExAC rs750588420
- TOPMed rs750588420
- gnomAD rs750588420
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)