R44H (p.Arg44His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R44H (p.Arg44His) 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 not provided; Lymphoproliferative syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs201892355
- ClinGen CA3532620
- ClinVar RCV002015941
- 1000Genomes rs201892355
- Uncertain significance
- not provided; Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available