R59* (p.Arg59Ter) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R59* (p.Arg59Ter) 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 and structural context.
R59* (p.Arg59Ter) variant details
- p.Arg59Ter
- TOPMed rs946804846
- gnomAD rs946804846
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 36.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available