S95R (p.Ser95Arg) variant of APOB (Apolipoprotein B-100)
S95R (p.Ser95Arg) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S95R (p.Ser95Arg) variant details
- p.Ser95Arg
- rs143613534
- ClinGen CA057414
- ClinVar RCV000290098
- ClinVar RCV000384933
- Conflicting interpretations
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.01
- CADD 23.20
- PolyPhen-2 0.41
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)