A3V (p.Ala3Val) variant of ACE (Angiotensin-converting enzyme)
A3V (p.Ala3Val) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 17-63477102-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.06
- MetaSVM -1.05
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available