G20R (p.Gly20Arg) variant of IFNGR1 (Interferon gamma receptor 1)
G20R (p.Gly20Arg) 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 0.35 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs765685150
- ClinGen CA4019102
- ClinVar RCV002240256
- ExAC rs765685150
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.37
- CADD 16.00
- PolyPhen-2 0.74
- SIFT 0.11
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available