R49R (p.Arg49Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R49R (p.Arg49Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R49R (p.Arg49Arg) variant details
- p.Arg49Arg
- rs770680687
- gnomAD 5-157208897-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.24
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available