E9G (p.Glu9Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E9G (p.Glu9Gly) 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 Lymphoproliferative syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- rs2113732600
- ClinGen CA361966159
- ClinVar RCV001901374
- Ensembl rs2113732600
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- ESM-1b 0.25
- AlphaMissense 0.20
- MutPred 0.52
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available