E8E (p.Glu8Glu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E8E (p.Glu8Glu) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- rs2113732596
- gnomAD 5-157181001-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 13.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available