G43V (p.Gly43Val) variant of KRT18 (Keratin, type I cytoskeletal 18)
G43V (p.Gly43Val) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- gnomAD 12-52949301-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.66
- CADD 24.70
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available