G98R (p.Gly98Arg) variant of AGT (Angiotensinogen)
G98R (p.Gly98Arg) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/vus-high in the context of Renal tubular dysgenesis of genetic origin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G98R (p.Gly98Arg) variant details
- p.Gly98Arg
- ExAC rs766006056
- TOPMed rs766006056
- gnomAD rs766006056
- Uncertain significance/VUS-high
- Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- CADD 17.60
- PolyPhen-2 0.11
- SIFT 0.09
- ClinVar: Uncertain significance/VUS-high (Renal tubular dysgenesis of genetic origin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available