S44C (p.Ser44Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
S44C (p.Ser44Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S44C (p.Ser44Cys) variant details
- p.Ser44Cys
- gnomAD rs1447084165
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.45
- CADD 22.50
- Population evidence available
- Structural context available