A27V (p.Ala27Val) variant of ACE (Angiotensin-converting enzyme)
A27V (p.Ala27Val) 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 not provided. 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.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs774092241
- ClinGen CA8698939
- ClinVar RCV002933729
- 1000Genomes rs774092241
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.02
- CADD 11.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available