R3527Q (p.Arg3527Gln) variant of APOB (Apolipoprotein B-100)
R3527Q (p.Arg3527Gln) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of APOB-related disorder; Homozygous familial hypercholesterolemia; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R3527Q (p.Arg3527Gln) variant details
- p.Arg3527Gln
- rs5742904
- ClinGen CA022750
- ClinVar RCV000019479
- ClinVar RCV000254882
- Pathogenic/Likely pathogenic
- APOB-related disorder; Homozygous familial hypercholesterolemia; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.73
- MetaLR 0.70
- MetaSVM 0.46
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (APOB-related disorder; Homozygous familial hypercholesterolemia;)
- EBI: Pathogenic (in FHCL2)
- UniProt: Pathogenic (in FHCL2)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene… (PMID 10952765)
- Cited in: The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. (PMID 11115503)