V61E (p.Val61Glu) variant of IFNGR1 (Interferon gamma receptor 1)
V61E (p.Val61Glu) 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 0.61 / 1. The record also includes published literature and structural context.
V61E (p.Val61Glu) variant details
- p.Val61Glu
- rs121912715
- ClinGen CA127609
- ClinVar RCV000019546
- UniProt VAR 080060
- Pathogenic
- Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.88
- MetaLR 0.61
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- 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: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)