R224W (p.Arg224Trp) variant of IL2RG (P31785)
R224W (p.Arg224Trp) 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 0.54 / 1. The record also includes published literature and structural context.
R224W (p.Arg224Trp) variant details
- p.Arg224Trp
- rs869320658
- ClinGen CA358778
- cosmic curated COSV52148
- ClinVar RCV000210828
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.55
- MetaLR 0.34
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined… (PMID 9049783)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)