A23E (p.Ala23Glu) variant of APOB (Apolipoprotein B-100)
A23E (p.Ala23Glu) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- ExAC rs748301384
- TOPMed rs748301384
- gnomAD rs748301384
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.96
- CADD 14.40
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available