A4D (p.Ala4Asp) variant of ACE (Angiotensin-converting enzyme)
A4D (p.Ala4Asp) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 17-63477105-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- ESM-1b 0.42
- AlphaMissense 0.32
- MetaLR 0.05
- MetaSVM -1.06
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available