R45G (p.Arg45Gly) variant of APOB (Apolipoprotein B-100)
R45G (p.Arg45Gly) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- rs779776455
- ClinGen CA052600
- ClinVar RCV000775597
- ClinVar RCV003768395
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -1.17
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)