A27D (p.Ala27Asp) variant of ACE (Angiotensin-converting enzyme)
A27D (p.Ala27Asp) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 17-63477174-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- ESM-1b 0.99
- AlphaMissense 0.20
- MetaLR 0.04
- MetaSVM -1.08
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available