G41R (p.Gly41Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
G41R (p.Gly41Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G41R (p.Gly41Arg) variant details
- p.Gly41Arg
- gnomAD 12-52949294-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.65
- CADD 25.50
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available