Y69* (p.Tyr69Ter) variant of KRT17 (Keratin, type I cytoskeletal 17)
Y69* (p.Tyr69Ter) in KRT17 (Keratin, type I cytoskeletal 17) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y69* (p.Tyr69Ter) variant details
- p.Tyr69Ter
- rs1227678934
- gnomAD 17-41620528-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 10.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available