E28Q (p.Glu28Gln) variant of APOB (Apolipoprotein B-100)
E28Q (p.Glu28Gln) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs1264357217
- ClinGen CA345966061
- ClinVar RCV002430342
- ClinVar RCV004700741
- Conflicting interpretations
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.91
- CADD 10.90
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available