A2D (p.Ala2Asp) variant of IFNGR1 (Interferon gamma receptor 1)
A2D (p.Ala2Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- rs121913172
- ClinGen CA365776542
- ClinVar RCV003763723
- 1000Genomes rs121913172
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.44
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available