R226H (p.Arg226His) variant of IL2RG (P31785)
R226H (p.Arg226His) 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 0.75 / 1. The record also includes published literature and structural context.
R226H (p.Arg226His) variant details
- p.Arg226His
- rs869320660
- ClinGen CA358793
- NCI-TCGA Cosmic COSV5214
- cosmic curated COSV52149
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.25
- MetaLR 0.90
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- 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)