G26A (p.Gly26Ala) variant of APOA5 (Apolipoprotein A-V)
G26A (p.Gly26Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- rs548745995
- ClinGen CA6289163
- ClinVar RCV004142515
- 1000Genomes rs548745995
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.18
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available