Q20R (p.Gln20Arg) variant of G6PC1 (P35575)
Q20R (p.Gln20Arg) 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 0.78 / 1. The record also includes published literature and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- rs2056021410
- ClinGen CA399650159
- cosmic curated COSV53832
- ClinVar RCV001332225
- Pathogenic/Likely pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.63
- MetaLR 0.71
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available
- Cited in: Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5… (PMID 10612834)
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)