G26V (p.Gly26Val) variant of APOA5 (Apolipoprotein A-V)
G26V (p.Gly26Val) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G26V (p.Gly26Val) variant details
- p.Gly26Val
- 1000Genomes rs548745995
- ExAC rs548745995
- TOPMed rs548745995
- gnomAD rs548745995
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.64
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available