A4S (p.Ala4Ser) variant of ACE (Angiotensin-converting enzyme)
A4S (p.Ala4Ser) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- Ensembl rs2049627288
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -1.01
- CADD 11.10
- Population evidence available
- Structural context available