W63* (p.Trp63Ter) variant of G6PC1 (P35575)
W63* (p.Trp63Ter) in G6PC1 (P35575) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GSD1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W63* (p.Trp63Ter) variant details
- p.Trp63Ter
- rs764920787
- ClinGen CA274195
- ClinVar RCV000169341
- ClinVar RCV006263711
- Pathogenic
- in GSD1A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 37.00
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)