C74* (p.Cys74Ter) variant of ITK (Tyrosine-protein kinase ITK/TSK)
C74* (p.Cys74Ter) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
C74* (p.Cys74Ter) variant details
- p.Cys74Ter
- gnomAD 5-157208972-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available