R44C (p.Arg44Cys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R44C (p.Arg44Cys) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar 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 0.78 / 1. The record also includes population frequency data and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- ExAC rs774659403
- gnomAD rs774659403
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.76
- ESM-1b 0.78
- AlphaMissense 0.55
- CADD 30.00
- PolyPhen-2 0.89
- SIFT 0.03
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available