G9R (p.Gly9Arg) variant of ACE (Angiotensin-converting enzyme)
G9R (p.Gly9Arg) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- rs1320210312
- 1000Genomes rs1320210312
- TOPMed rs1320210312
- gnomAD rs1320210312
- Uncertain significance
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.05
- MetaSVM -1.00
- CADD 17.40
- ClinVar: Uncertain significance (Renal tubular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available