R49H (p.Arg49His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R49H (p.Arg49His) 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 0.52 / 1. The record also includes population frequency data and structural context.
R49H (p.Arg49His) variant details
- p.Arg49His
- rs762768477
- ClinGen CA3532644
- ClinVar RCV001155096
- ExAC rs762768477
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 24.00
- PolyPhen-2 0.72
- SIFT 0.10
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available