R50W (p.Arg50Trp) variant of APOB (Apolipoprotein B-100)
R50W (p.Arg50Trp) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R50W (p.Arg50Trp) variant details
- p.Arg50Trp
- rs749903604
- ClinGen CA053843
- cosmic curated COSV51944
- ClinVar RCV000505221
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.36
- MetaLR 0.25
- MetaSVM -0.56
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)