C4G (p.Cys4Gly) variant of GLG1 (Golgi apparatus protein 1)
C4G (p.Cys4Gly) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
C4G (p.Cys4Gly) variant details
- p.Cys4Gly
- rs371279250
- ClinGen CA8168880
- ClinVar RCV004363388
- 1000Genomes rs371279250
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.26
- MetaLR 0.09
- MetaSVM -1.01
- CADD 25.80
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available