Y209C (p.Tyr209Cys) variant of G6PC1 (P35575)
Y209C (p.Tyr209Cys) 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 0.67 / 1. The record also includes published literature and structural context.
Y209C (p.Tyr209Cys) variant details
- p.Tyr209Cys
- rs2056091436
- ClinGen CA399655604
- ClinVar RCV001049851
- UniProt VAR 046268
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.61
- MetaLR 0.64
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- 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 Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. (PMID 15542400)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)