R12G (p.Arg12Gly) variant of GLG1 (Golgi apparatus protein 1)
R12G (p.Arg12Gly) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- 1000Genomes rs201128650
- ESP rs201128650
- ExAC rs201128650
- TOPMed rs201128650
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.06
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available