Y78H (p.Tyr78His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Y78H (p.Tyr78His) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y78H (p.Tyr78His) variant details
- p.Tyr78His
- gnomAD 5-157208982-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available