G59A (p.Gly59Ala) variant of APOA1 (Apolipoprotein A-I)
G59A (p.Gly59Ala) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G59A (p.Gly59Ala) variant details
- p.Gly59Ala
- ExAC rs775559386
- TOPMed rs775559386
- gnomAD rs775559386
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0702
- REVEL 0.06
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available