G122D (p.Gly122Asp) variant of G6PC1 (P35575)
G122D (p.Gly122Asp) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G122D (p.Gly122Asp) variant details
- p.Gly122Asp
- rs759982943
- ClinGen CA8587562
- ClinVar RCV001390823
- UniProt VAR 046259
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.79
- AlphaMissense 0.46
- MetaLR 0.51
- MetaSVM -0.08
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing… (PMID 10748407)
- Cited in: Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with… (PMID 15151508)