C77Y (p.Cys77Tyr) variant of IFNGR1 (Interferon gamma receptor 1)
C77Y (p.Cys77Tyr) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
C77Y (p.Cys77Tyr) variant details
- p.Cys77Tyr
- rs104893974
- ClinGen CA127607
- ClinVar RCV000019545
- UniProt VAR 017577
- Pathogenic
- Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.98
- MetaLR 0.80
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Immunodeficiency 27A)
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Structural context available
- Cited in: In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. (PMID 10811850)
- Cited in: Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. (PMID 15589309)