C62R (p.Cys62Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
C62R (p.Cys62Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C62R (p.Cys62Arg) variant details
- p.Cys62Arg
- gnomAD 5-157208934-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available