R12C (p.Arg12Cys) variant of GLG1 (Golgi apparatus protein 1)
R12C (p.Arg12Cys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- 1000Genomes rs201128650
- ESP rs201128650
- ExAC rs201128650
- TOPMed rs201128650
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.06
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available