L46P (p.Leu46Pro) variant of APOE (Apolipoprotein E)
L46P (p.Leu46Pro) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypercholesterolemia; APOE4(-)-FREIBURG. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs769452
- ClinGen CA041808
- ClinVar RCV000019456
- ClinVar RCV000429606
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; APOE4(-)-FREIBURG
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.53
- CADD 0.72
- PolyPhen-2 0.44
- SIFT 0.17
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; APOE4(-)-FREIBURG)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. (PMID 11042151)
- Cited in: Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. (PMID 26802169)