G270V (p.Gly270Val) variant of G6PC1 (P35575)
G270V (p.Gly270Val) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G270V (p.Gly270Val) variant details
- p.Gly270Val
- rs80356483
- ClinGen CA341569
- ClinVar RCV000239699
- ClinVar RCV001551101
- Pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.94
- AlphaMissense 0.90
- MetaLR 0.70
- MetaSVM 0.55
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)