R50Q (p.Arg50Gln) variant of APOB (Apolipoprotein B-100)
R50Q (p.Arg50Gln) 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 Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs1465696669
- ClinGen CA345965244
- cosmic curated COSV51926
- ClinVar RCV000845564
- Conflicting interpretations
- Cardiovascular phenotype; Hypercholesterolemia, autosomal dominant, type B; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.27
- MetaLR 0.23
- MetaSVM -0.67
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypercholesterolemia, autosomal domina)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)