L13P (p.Leu13Pro) variant of ACE (Angiotensin-converting enzyme)
L13P (p.Leu13Pro) 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 0.10 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1187548350
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Hemorrhage, intracerebral, susceptib
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- ESM-1b 0.18
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -1.04
- CADD 4.37
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Hemorrhage, intracer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available