A43E (p.Ala43Glu) variant of APOB (Apolipoprotein B-100)
A43E (p.Ala43Glu) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, autosomal dominant, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A43E (p.Ala43Glu) variant details
- p.Ala43Glu
- ExAC rs780841518
- TOPMed rs780841518
- gnomAD rs780841518
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- MetaLR 0.04
- MetaSVM -1.13
- CADD 24.00
- PolyPhen-2 0.77
- SIFT 0.03
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, type B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available