G270R (p.Gly270Arg) variant of G6PC1 (P35575)
G270R (p.Gly270Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G270R (p.Gly270Arg) variant details
- p.Gly270Arg
- rs1272803483
- ClinGen CA399656391
- ClinVar RCV001582383
- UniProt VAR 046274
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.87
- MetaLR 0.66
- MetaSVM 0.46
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)