L18M (p.Leu18Met) variant of ACE (Angiotensin-converting enzyme)
L18M (p.Leu18Met) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 17-63477146-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.10
- MetaSVM -1.01
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available