Y78* (p.Tyr78Ter) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Y78* (p.Tyr78Ter) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y78* (p.Tyr78Ter) variant details
- p.Tyr78Ter
- gnomAD 5-157208984-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available