A3S (p.Ala3Ser) variant of ACE (Angiotensin-converting enzyme)
A3S (p.Ala3Ser) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 17-63477101-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -0.89
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available