A27G (p.Ala27Gly) variant of ACE (Angiotensin-converting enzyme)
A27G (p.Ala27Gly) 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 0.14 / 1. The record also includes population frequency data and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- 1000Genomes rs774092241
- ExAC rs774092241
- TOPMed rs774092241
- gnomAD rs774092241
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.05
- CADD 12.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available