G232R (p.Gly232Arg) variant of IL2RG (P31785)
G232R (p.Gly232Arg) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
G232R (p.Gly232Arg) variant details
- p.Gly232Arg
- rs1569479909
- ClinGen CA413495953
- ClinVar RCV000781478
- ClinVar RCV001856197
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.91
- MetaLR 0.36
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance (in XSCID)
- UniProt: Uncertain significance (in XSCID)
- Structural context available
- Cited in: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. (PMID 9058718)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)