E56V (p.Glu56Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E56V (p.Glu56Val) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E56V (p.Glu56Val) variant details
- p.Glu56Val
- ExAC rs754361306
- gnomAD rs754361306
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 26.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available