S47C (p.Ser47Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
S47C (p.Ser47Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S47C (p.Ser47Cys) variant details
- p.Ser47Cys
- gnomAD 12-52949312-TCC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available