S49P (p.Ser49Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
S49P (p.Ser49Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- gnomAD 12-52949313-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available