A10E (p.Ala10Glu) variant of APOB (Apolipoprotein B-100)
A10E (p.Ala10Glu) 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 0.16 / 1. The record also includes population frequency data and structural context.
A10E (p.Ala10Glu) variant details
- p.Ala10Glu
- rs910952630
- ClinGen CA43470296
- ClinVar RCV004525464
- Ensembl rs910952630
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.17
- MetaLR 0.01
- MetaSVM -0.92
- CADD 9.04
- PolyPhen-2 0.20
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available