D93N (p.Asp93Asn) variant of IFNGR1 (Interferon gamma receptor 1)
D93N (p.Asp93Asn) 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 0.18 / 1. The record also includes population frequency data and structural context.
D93N (p.Asp93Asn) variant details
- p.Asp93Asn
- rs1273041625
- ClinGen CA365775798
- ClinVar RCV002241479
- TOPMed rs1273041625
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.23
- CADD 5.61
- PolyPhen-2 0.40
- SIFT 0.17
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available