E8G (p.Glu8Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E8G (p.Glu8Gly) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD 5-157181000-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 28.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available