A125P (p.Ala125Pro) variant of APOB (Apolipoprotein B-100)
A125P (p.Ala125Pro) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A125P (p.Ala125Pro) variant details
- p.Ala125Pro
- rs1241876329
- ClinGen CA345963867
- ClinVar RCV004352578
- TOPMed rs1241876329
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.31
- MetaLR 0.25
- MetaSVM -0.56
- CADD 26.50
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available