I12L (p.Ile12Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I12L (p.Ile12Leu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I12L (p.Ile12Leu) variant details
- p.Ile12Leu
- gnomAD 5-157181011-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.44
- ESM-1b 0.12
- AlphaMissense 0.25
- CADD 20.70
- PolyPhen-2 0.31
- SIFT 0.87
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available