E9E (p.Glu9Glu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E9E (p.Glu9Glu) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E9E (p.Glu9Glu) variant details
- p.Glu9Glu
- rs779466042
- gnomAD 5-157181004-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available