G118S (p.Gly118Ser) variant of G6PC1 (P35575)
G118S (p.Gly118Ser) 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 due to glucose-6-phosphatase deficiency type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G118S (p.Gly118Ser) variant details
- p.Gly118Ser
- rs761007323
- ClinGen CA8587559
- ClinVar RCV002237489
- ExAC rs761007323
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)