L18P (p.Leu18Pro) variant of ACE (Angiotensin-converting enzyme)
L18P (p.Leu18Pro) 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.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 17-63477147-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.16
- ESM-1b 0.67
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.07
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available