C4R (p.Cys4Arg) variant of GLG1 (Golgi apparatus protein 1)
C4R (p.Cys4Arg) 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 0.39 / 1. The record also includes population frequency data and structural context.
C4R (p.Cys4Arg) variant details
- p.Cys4Arg
- 1000Genomes rs371279250
- ExAC rs371279250
- TOPMed rs371279250
- gnomAD rs371279250
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- MetaLR 0.11
- MetaSVM -1.01
- CADD 25.40
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available