R29C (p.Arg29Cys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R29C (p.Arg29Cys) 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 0.90 / 1. The record also includes population frequency data and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs201513154
- ClinGen CA130151086
- NCI-TCGA Cosmic COSV7006
- ClinVar RCV003118029
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available