Y90H (p.Tyr90His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Y90H (p.Tyr90His) 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.
Y90H (p.Tyr90His) variant details
- p.Tyr90His
- gnomAD 5-157211311-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available