G59V (p.Gly59Val) variant of APOA1 (Apolipoprotein A-I)
G59V (p.Gly59Val) 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 not provided. 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.
G59V (p.Gly59Val) variant details
- p.Gly59Val
- rs775559386
- ClinGen CA6289879
- ClinVar RCV002625975
- ExAC rs775559386
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0795
- REVEL 0.05
- CADD 9.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available