R8L (p.Arg8Leu) variant of ACE (Angiotensin-converting enzyme)
R8L (p.Arg8Leu) 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 0.09 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- TOPMed rs2049627704
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Hemorrhage, intracerebral, susceptib
- Missense
- Variant Prioritization Score for Impact Estimate 0.0891
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.06
- MetaSVM -1.00
- CADD 1.19
- 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