A3D (p.Ala3Asp) variant of ACE (Angiotensin-converting enzyme)
A3D (p.Ala3Asp) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 17-63477102-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- ESM-1b 0.78
- AlphaMissense 0.30
- MetaLR 0.12
- MetaSVM -0.90
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available