G41C (p.Gly41Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
G41C (p.Gly41Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G41C (p.Gly41Cys) variant details
- p.Gly41Cys
- gnomAD 12-52949294-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available