Q17K (p.Gln17Lys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Q17K (p.Gln17Lys) 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 0.97 / 1. The record also includes structural context.
Q17K (p.Gln17Lys) variant details
- p.Gln17Lys
- rs781686293
- ClinGen CA361966287
- ClinVar RCV003626939
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.93
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available