R226C (p.Arg226Cys) variant of IL2RG (P31785)
R226C (p.Arg226Cys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R226C (p.Arg226Cys) variant details
- p.Arg226Cys
- rs869320659
- ClinGen CA358784
- ClinVar RCV000210834
- ClinVar RCV000256109
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.58
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined… (PMID 7668284)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)