G63R (p.Gly63Arg) variant of APOB (Apolipoprotein B-100)
G63R (p.Gly63Arg) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- rs904819460
- ClinGen CA43469085
- ClinVar RCV001179472
- ClinVar RCV002411680
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.21
- MetaLR 0.06
- MetaSVM -1.12
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)