A2G (p.Ala2Gly) variant of GLG1 (Golgi apparatus protein 1)
A2G (p.Ala2Gly) 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 0.34 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- ExAC rs781349197
- TOPMed rs781349197
- gnomAD rs781349197
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -0.90
- CADD 31.00
- PolyPhen-2 0.27
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available