R3527W (p.Arg3527Trp) variant of APOB (Apolipoprotein B-100)
R3527W (p.Arg3527Trp) 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; Familial hypobe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R3527W (p.Arg3527Trp) variant details
- p.Arg3527Trp
- rs144467873
- ClinGen CA044117
- ClinVar RCV000231844
- ClinVar RCV000408839
- Pathogenic/Likely pathogenic
- APOB-related disorder; Homozygous familial hypercholesterolemia; Familial hypobe
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.85
- MetaLR 0.67
- MetaSVM 0.45
- CADD 26.40
- PolyPhen-2 1.00
- 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 9.9e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)