D124E (p.Asp124Glu) variant of IFNGR1 (Interferon gamma receptor 1)
D124E (p.Asp124Glu) 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 0.14 / 1. The record also includes population frequency data and structural context.
D124E (p.Asp124Glu) variant details
- p.Asp124Glu
- rs1779421514
- ClinGen CA365775584
- ClinVar RCV002587410
- Ensembl rs1779421514
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.19
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available