R285Q (p.Arg285Gln) variant of IL2RG (P31785)
R285Q (p.Arg285Gln) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R285Q (p.Arg285Gln) variant details
- p.Arg285Gln
- rs111033617
- ClinGen CA254992
- cosmic curated COSV10500
- ClinVar RCV000010709
- Pathogenic
- not provided; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.77
- CADD 35.00
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Pathogenic (not provided; X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Population evidence available
- Structural context available
- Cited in: Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by… (PMID 7557965)
- Cited in: B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. (PMID 9150740)