A3G (p.Ala3Gly) variant of GLG1 (Golgi apparatus protein 1)
A3G (p.Ala3Gly) in GLG1 (Golgi apparatus protein 1) 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 0.23 / 1. The record also includes population frequency data and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- ExAC rs752535549
- TOPMed rs752535549
- gnomAD rs752535549
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.08
- CADD 25.30
- PolyPhen-2 0.19
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available