S49C (p.Ser49Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
S49C (p.Ser49Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- gnomAD 12-52949315-G-GTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available