C231Y (p.Cys231Tyr) variant of IL2RG (P31785)
C231Y (p.Cys231Tyr) 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 record also includes published literature and structural context.
C231Y (p.Cys231Tyr) variant details
- p.Cys231Tyr
- rs2519645571
- ClinGen CA413495956
- ClinVar RCV003041453
- UniProt VAR 002694
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)