Q39R (p.Gln39Arg) variant of APOE (Apolipoprotein E)
Q39R (p.Gln39Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- rs756353413
- ClinGen CA9505979
- ClinVar RCV004417831
- ExAC rs756353413
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.23
- CADD 17.90
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available