P6T (p.Pro6Thr) variant of APOB (Apolipoprotein B-100)
P6T (p.Pro6Thr) 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 0.23 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- TOPMed rs1572806428
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.97
- CADD 22.30
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available