R29S (p.Arg29Ser) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R29S (p.Arg29Ser) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- 1000Genomes rs201513154
- TOPMed rs201513154
- gnomAD rs201513154
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available