Y118* (p.Tyr118Ter) variant of KRT13 (Keratin, type I cytoskeletal 13)
Y118* (p.Tyr118Ter) in KRT13 (Keratin, type I cytoskeletal 13) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Y118* (p.Tyr118Ter) variant details
- p.Tyr118Ter
- Ensembl rs1905019058
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 38.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available