E64V (p.Glu64Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E64V (p.Glu64Val) 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 and structural context.
E64V (p.Glu64Val) variant details
- p.Glu64Val
- gnomAD rs1360874103
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available