R3527L (p.Arg3527Leu) variant of APOB (Apolipoprotein B-100)
R3527L (p.Arg3527Leu) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R3527L (p.Arg3527Leu) variant details
- p.Arg3527Leu
- rs5742904
- ClinGen CA345986090
- ClinVar RCV000508958
- ClinVar RCV005222982
- Likely pathogenic
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- MutPred 0.86
- ClinVar: Likely pathogenic (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Pathogenic (in FHCL2)
- UniProt: Pathogenic (in FHCL2)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)