G68R (p.Gly68Arg) variant of G6PC1 (P35575)
G68R (p.Gly68Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.80 / 1. The record also includes published literature and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- rs1567702819
- ClinGen CA399651372
- ClinVar RCV002237083
- UniProt VAR 046254
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.84
- MetaLR 0.70
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)
- Cited in: A novel mutation in a Brazilian patient with glycogen storage disease type 1a. (PMID 9700613)