K117E (p.Lys117Glu) variant of KRT8 (Keratin, type II cytoskeletal 8)
K117E (p.Lys117Glu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
K117E (p.Lys117Glu) variant details
- p.Lys117Glu
- TOPMed rs1274893384
- gnomAD rs1274893384
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.03
- Population evidence available