Y89C (p.Tyr89Cys) variant of IL2RG (P31785)
Y89C (p.Tyr89Cys) 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 record also includes published literature and structural context.
Y89C (p.Tyr89Cys) variant details
- p.Tyr89Cys
- rs2519647897
- ClinGen CA413496966
- ClinVar RCV003509058
- UniProt VAR 002673
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. (PMID 9058718)
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)