P257H (p.Pro257His) variant of G6PC1 (P35575)
P257H (p.Pro257His) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.79 / 1. The record also includes published literature and structural context.
P257H (p.Pro257His) variant details
- p.Pro257His
- rs1597991733
- ClinGen CA399656204
- ClinVar RCV000989858
- ClinVar RCV005562520
- Conflicting interpretations
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.94
- MetaLR 0.69
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Conflicting classifications of pathogenicity (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Likely pathogenic (in GSD1A)
- UniProt: Likely pathogenic (in GSD1A)
- 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)