E110K (p.Glu110Lys) variant of G6PC1 (P35575)
E110K (p.Glu110Lys) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E110K (p.Glu110Lys) variant details
- p.Glu110Lys
- rs104894567
- ClinGen CA256186
- ClinVar RCV000012785
- ClinVar RCV004700222
- Pathogenic/Likely pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)