G59D (p.Gly59Asp) variant of APOA1 (Apolipoprotein A-I)
G59D (p.Gly59Asp) in APOA1 (Apolipoprotein A-I) 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 0.08 / 1. The record also includes population frequency data and structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- rs775559386
- ClinGen CA382718470
- ClinVar RCV004518622
- ExAC rs775559386
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0788
- REVEL 0.05
- CADD 9.61
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available