I91T (p.Ile91Thr) variant of APOB (Apolipoprotein B-100)
I91T (p.Ile91Thr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I91T (p.Ile91Thr) variant details
- p.Ile91Thr
- 1000Genomes rs148503464
- ExAC rs148503464
- TOPMed rs148503464
- gnomAD rs148503464
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.24
- MetaLR 0.20
- MetaSVM -0.70
- CADD 24.20
- PolyPhen-2 0.39
- SIFT 0.07
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available