G46E (p.Gly46Glu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
G46E (p.Gly46Glu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- gnomAD rs1164561019
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.62
- ESM-1b 0.51
- AlphaMissense 0.43
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available