R222G (p.Arg222Gly) variant of IL2RG (P31785)
R222G (p.Arg222Gly) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
R222G (p.Arg222Gly) variant details
- p.Arg222Gly
- rs111033618
- ClinGen CA413496015
- ClinVar RCV003510966
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.47
- MetaLR 0.14
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic (in XCID)
- UniProt: Likely pathogenic (in XCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)