E42G (p.Glu42Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E42G (p.Glu42Gly) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- gnomAD 5-157181102-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 28.20
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available