L14M (p.Leu14Met) variant of ACE (Angiotensin-converting enzyme)
L14M (p.Leu14Met) 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, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD 17-63477134-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.06
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available