G9W (p.Gly9Trp) variant of ACE (Angiotensin-converting enzyme)
G9W (p.Gly9Trp) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G9W (p.Gly9Trp) variant details
- p.Gly9Trp
- 1000Genomes rs1320210312
- TOPMed rs1320210312
- gnomAD rs1320210312
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.00
- CADD 18.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available