C4S (p.Cys4Ser) variant of GLG1 (Golgi apparatus protein 1)
C4S (p.Cys4Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
C4S (p.Cys4Ser) variant details
- p.Cys4Ser
- 1000Genomes rs371279250
- ExAC rs371279250
- TOPMed rs371279250
- gnomAD rs371279250
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -0.91
- CADD 24.30
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available