R29R (p.Arg29Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R29R (p.Arg29Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R29R (p.Arg29Arg) variant details
- p.Arg29Arg
- rs146496148
- gnomAD 5-157181064-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 8.02
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available