C77F (p.Cys77Phe) variant of IFNGR1 (Interferon gamma receptor 1)
C77F (p.Cys77Phe) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD27A. The record also includes published literature and structural context.
C77F (p.Cys77Phe) variant details
- p.Cys77Phe
- UniProt VAR 080064
- Pathogenic
- in IMD27A
- Missense
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Structural context available
- Cited in: Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum… (PMID 16715106)
- Cited in: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)