R222C (p.Arg222Cys) variant of IL2RG (P31785)
R222C (p.Arg222Cys) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R222C (p.Arg222Cys) variant details
- p.Arg222Cys
- rs111033618
- ClinGen CA120885
- cosmic curated COSV10500
- ClinVar RCV000010710
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.78
- AlphaMissense 0.47
- MetaLR 0.14
- MetaSVM -0.85
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XCID)
- UniProt: Pathogenic (in XCID)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: An interleukin-2 receptor gamma chain mutation with normal thymus morphology. (PMID 9399950)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)