L22M (p.Leu22Met) variant of ACE (Angiotensin-converting enzyme)
L22M (p.Leu22Met) 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.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 17-63477158-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.10
- MetaSVM -1.02
- CADD 9.92
- Population evidence available
- Structural context available
- Literature evidence available