R490W (p.Arg490Trp) variant of APOB (Apolipoprotein B-100)
R490W (p.Arg490Trp) 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 Familial hypobetalipoproteinemia 1; not provided; APOB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R490W (p.Arg490Trp) variant details
- p.Arg490Trp
- rs771541567
- ClinGen CA053659
- ClinVar RCV002249254
- ClinVar RCV004533995
- Pathogenic/Likely pathogenic
- Familial hypobetalipoproteinemia 1; not provided; APOB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.56
- MetaLR 0.28
- MetaSVM -0.51
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypobetalipoproteinemia 1; not provided; APOB-related d)
- EBI: Pathogenic (in FHBL1)
- UniProt: Pathogenic (in FHBL1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. (PMID 12551903)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)