Q96E (p.Gln96Glu) variant of APOB (Apolipoprotein B-100)
Q96E (p.Gln96Glu) 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 Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q96E (p.Gln96Glu) variant details
- p.Gln96Glu
- rs1159073410
- ClinGen CA345964174
- ClinVar RCV002929073
- ClinVar RCV004068059
- Uncertain significance
- Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -1.02
- CADD 23.10
- SIFT 0.64
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)