R128G (p.Arg128Gly) variant of APOB (Apolipoprotein B-100)
R128G (p.Arg128Gly) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R128G (p.Arg128Gly) variant details
- p.Arg128Gly
- rs1664115534
- ClinGen CA345963848
- ClinVar RCV001136559
- ClinVar RCV001136560
- Uncertain significance
- Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hypercholesterolem
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.95
- CADD 33.00
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hypobetalipoproteinemia 1; Hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)