R83H (p.Arg83His) variant of G6PC1 (P35575)
R83H (p.Arg83His) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t. 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.
R83H (p.Arg83His) variant details
- p.Arg83His
- rs1801176
- ClinGen CA341566
- ClinVar RCV000020132
- ClinVar RCV004794349
- Pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing… (PMID 10748407)
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)