L28M (p.Leu28Met) variant of ACE (Angiotensin-converting enzyme)
L28M (p.Leu28Met) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- gnomAD 17-63477176-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.04
- ESM-1b 0.92
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.04
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available