W77R (p.Trp77Arg) variant of G6PC1 (P35575)
W77R (p.Trp77Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W77R (p.Trp77Arg) variant details
- p.Trp77Arg
- rs104894566
- ClinGen CA256181
- ClinVar RCV000012781
- ClinVar RCV006424601
- Pathogenic
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.75
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage… (PMID 10874313)
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)