R7G (p.Arg7Gly) variant of ACE (Angiotensin-converting enzyme)
R7G (p.Arg7Gly) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- TOPMed rs1285068027
- gnomAD rs1285068027
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.00
- CADD 12.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available