A2G (p.Ala2Gly) variant of IFNGR1 (Interferon gamma receptor 1)
A2G (p.Ala2Gly) 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 0.25 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs121913172
- ClinGen CA4019114
- ClinVar RCV002240553
- 1000Genomes rs121913172
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.18
- AlphaMissense 0.10
- MetaLR 0.39
- MetaSVM -0.41
- CADD 16.00
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available