I37M (p.Ile37Met) variant of IFNGR1 (Interferon gamma receptor 1)
I37M (p.Ile37Met) 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 Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I37M (p.Ile37Met) variant details
- p.Ile37Met
- rs762424077
- ClinGen CA365776182
- ClinVar RCV002234229
- TOPMed rs762424077
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.33
- CADD 15.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance (in IMD27A)
- UniProt: Uncertain significance (in IMD27A)
- Most common in the African/African-American population (allele frequency 0.00021)
- Structural context available