R51P (p.Arg51Pro) variant of APOA5 (Apolipoprotein A-V)
R51P (p.Arg51Pro) in APOA5 (Apolipoprotein A-V) 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 0.29 / 1. The record also includes population frequency data and structural context.
R51P (p.Arg51Pro) variant details
- p.Arg51Pro
- rs1458297508
- ClinGen CA382740756
- ClinVar RCV004128185
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.38
- CADD 15.20
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available