E28* (p.Glu28Ter) variant of APOB (Apolipoprotein B-100)
E28* (p.Glu28Ter) in APOB (Apolipoprotein B-100) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- TOPMed rs1264357217
- gnomAD rs1264357217
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available