I37T (p.Ile37Thr) variant of IFNGR1 (Interferon gamma receptor 1)
I37T (p.Ile37Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I37T (p.Ile37Thr) variant details
- p.Ile37Thr
- rs945137618
- UniProt VAR 080059
- TOPMed rs945137618
- Pathogenic
- in IMD27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database. (PMID 28744922)
- Cited in: In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. (PMID 10811850)