A7E (p.Ala7Glu) variant of APOB (Apolipoprotein B-100)
A7E (p.Ala7Glu) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- Ensembl rs1420256121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.97
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available