A10V (p.Ala10Val) variant of APOB (Apolipoprotein B-100)
A10V (p.Ala10Val) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, 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 0.10 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- Ensembl rs910952630
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.94
- CADD 8.79
- PolyPhen-2 0.03
- SIFT 0.68
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available