L19P (p.Leu19Pro) variant of ACE (Angiotensin-converting enzyme)
L19P (p.Leu19Pro) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- TOPMed rs1157043147
- gnomAD rs1157043147
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.09
- MetaSVM -1.07
- CADD 23.60
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available