F322L (p.Phe322Leu) variant of G6PC1 (P35575)
F322L (p.Phe322Leu) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease; Glycogen storage disease due to glucose-6-phosphatase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F322L (p.Phe322Leu) variant details
- p.Phe322Leu
- rs1399520060
- ClinGen CA399657352
- ClinVar RCV002781305
- UniProt VAR 046277
- Likely pathogenic
- Glycogen storage disease; Glycogen storage disease due to glucose-6-phosphatase
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.89
- MetaLR 0.73
- MetaSVM 0.48
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)