L19M (p.Leu19Met) variant of ACE (Angiotensin-converting enzyme)
L19M (p.Leu19Met) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 17-63477149-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -1.06
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available