Y40N (p.Tyr40Asn) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Y40N (p.Tyr40Asn) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y40N (p.Tyr40Asn) variant details
- p.Tyr40Asn
- gnomAD 5-157181095-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.30
- PolyPhen-2 0.58
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available