S72I (p.Ser72Ile) variant of APOB (Apolipoprotein B-100)
S72I (p.Ser72Ile) 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 Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S72I (p.Ser72Ile) variant details
- p.Ser72Ile
- rs759881866
- ClinGen CA055449
- ClinVar RCV001950030
- ClinVar RCV005453407
- Conflicting interpretations
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.40
- CADD 27.20
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Benign
- UniProt: 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)