V32M (p.Val32Met) variant of ITK (Tyrosine-protein kinase ITK/TSK)
V32M (p.Val32Met) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V32M (p.Val32Met) variant details
- p.Val32Met
- gnomAD rs1179937592
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.70
- ESM-1b 0.79
- AlphaMissense 0.25
- CADD 26.20
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available