A29S (p.Ala29Ser) variant of ACE (Angiotensin-converting enzyme)
A29S (p.Ala29Ser) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 17-63477179-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.06
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available