A7V (p.Ala7Val) variant of APOB (Apolipoprotein B-100)
A7V (p.Ala7Val) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1420256121
- ClinGen CA345966360
- ClinVar RCV002424192
- Ensembl rs1420256121
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.94
- CADD 15.30
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available