G188D (p.Gly188Asp) variant of G6PC1 (P35575)
G188D (p.Gly188Asp) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G188D (p.Gly188Asp) variant details
- p.Gly188Asp
- rs760981149
- UniProt VAR 009207
- ExAC rs760981149
- gnomAD rs760981149
- Conflicting interpretations
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5… (PMID 10612834)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)