R29H (p.Arg29His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R29H (p.Arg29His) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ITK-related disorder; 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, published literature, and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs397514261
- ClinGen CA144697
- NCI-TCGA Cosmic COSV1014
- NCI-TCGA Cosmic COSV7006
- Likely pathogenic
- ITK-related disorder; Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (ITK-related disorder; Lymphoproliferative syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative… (PMID 22289921)