G188R (p.Gly188Arg) variant of G6PC1 (P35575)
G188R (p.Gly188Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type I; not provided; Glycogen storage disease due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G188R (p.Gly188Arg) variant details
- p.Gly188Arg
- rs80356482
- ClinGen CA256190
- ClinVar RCV000012788
- ClinVar RCV001723560
- Pathogenic
- Glycogen storage disease, type I; not provided; Glycogen storage disease due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.90
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Glycogen storage disease, type I; not provided; Glycogen storage)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage… (PMID 10874313)
- Cited in: Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. (PMID 10960498)