C85Y (p.Cys85Tyr) variant of IFNGR1 (Interferon gamma receptor 1)
C85Y (p.Cys85Tyr) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 27A. The record also includes published literature and structural context.
C85Y (p.Cys85Tyr) variant details
- p.Cys85Tyr
- UniProt VAR 080065
- Uncertain significance
- Immunodeficiency 27A
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 27A)
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Structural context available
- Cited in: Two patients with complete defects in interferon gamma receptor-dependent signaling. (PMID 17514500)
- Cited in: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)