L30F (p.Leu30Phe) variant of ACE (Angiotensin-converting enzyme)
L30F (p.Leu30Phe) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis of genetic origin; Hemorrhage, intracerebral, susceptib. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- TOPMed rs1450600177
- gnomAD rs1450600177
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Hemorrhage, intracerebral, susceptib
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.07
- MetaSVM -0.92
- CADD 14.50
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Hemorrhage, intracer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available