H119D (p.His119Asp) variant of G6PC1 (P35575)
H119D (p.His119Asp) 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 0.92 / 1. The record also includes published literature and structural context.
H119D (p.His119Asp) variant details
- p.His119Asp
- rs1332616844
- ClinGen CA399653736
- ClinVar RCV001293638
- TOPMed rs1332616844
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 0.68
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: 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)