L18V (p.Leu18Val) variant of ACE (Angiotensin-converting enzyme)
L18V (p.Leu18Val) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 17-63477146-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.06
- CADD 4.95
- Population evidence available
- Structural context available
- Literature evidence available