Q47H (p.Gln47His) variant of APOA5 (Apolipoprotein A-V)
Q47H (p.Gln47His) 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; not provided. 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.
Q47H (p.Gln47His) variant details
- p.Gln47His
- rs778942385
- ClinGen CA6289153
- ClinVar RCV002391795
- ClinVar RCV003095130
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available