W156L (p.Trp156Leu) variant of G6PC1 (P35575)
W156L (p.Trp156Leu) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
W156L (p.Trp156Leu) variant details
- p.Trp156Leu
- rs1189630738
- UniProt VAR 009206
- TOPMed rs1189630738
- gnomAD rs1189630738
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: 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 5.4e-06)
- 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)