A7P (p.Ala7Pro) variant of APOE (Apolipoprotein E)
A7P (p.Ala7Pro) in APOE (Apolipoprotein E) 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 0.40 / 1. The record also includes population frequency data and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- rs1969812567
- ClinGen CA406301995
- ClinVar RCV004417832
- TOPMed rs1969812567
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.48
- CADD 18.10
- PolyPhen-2 0.77
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available