G184E (p.Gly184Glu) variant of G6PC1 (P35575)
G184E (p.Gly184Glu) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G184E (p.Gly184Glu) variant details
- p.Gly184Glu
- rs104894569
- ClinGen CA256188
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)
- Cited in: Mutation analysis in 24 French patients with glycogen storage disease type 1a. (PMID 8733042)