G66R (p.Gly66Arg) variant of APOB (Apolipoprotein B-100)
G66R (p.Gly66Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs1664151833
- TOPMed rs1664151833
- ClinGen CA345965111
- ClinVar RCV003801227
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.87
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)