E120G (p.Glu120Gly) variant of KRT8 (Keratin, type II cytoskeletal 8)
E120G (p.Glu120Gly) 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.
E120G (p.Glu120Gly) variant details
- p.Glu120Gly
- gnomAD rs1345554697
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.01
- Population evidence available