S95G (p.Ser95Gly) variant of APOB (Apolipoprotein B-100)
S95G (p.Ser95Gly) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S95G (p.Ser95Gly) variant details
- p.Ser95Gly
- rs200318200
- ClinVar RCV006590444
- 1000Genomes rs200318200
- ExAC rs200318200
- Likely benign
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.61
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Likely benign (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)