Y13* (p.Tyr13Ter) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y13* (p.Tyr13Ter) in KRT18 (Keratin, type I cytoskeletal 18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y13* (p.Tyr13Ter) variant details
- p.Tyr13Ter
- gnomAD 12-52949212-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available