A54G (p.Ala54Gly) variant of APOC2 (Apolipoprotein C-II)
A54G (p.Ala54Gly) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- 1000Genomes rs761724352
- ExAC rs761724352
- TOPMed rs761724352
- gnomAD rs761724352
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.39
- CADD 22.20
- PolyPhen-2 0.83
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available