E101D (p.Glu101Asp) variant of APOB (Apolipoprotein B-100)
E101D (p.Glu101Asp) 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 Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The record also includes published literature and structural context.
E101D (p.Glu101Asp) variant details
- p.Glu101Asp
- rs2465455223
- ClinGen CA345964074
- ClinVar RCV002296509
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)