A123P (p.Ala123Pro) variant of APOB (Apolipoprotein B-100)
A123P (p.Ala123Pro) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A123P (p.Ala123Pro) variant details
- p.Ala123Pro
- gnomAD rs1177975597
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.40
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available