M5R (p.Met5Arg) variant of G6PC1 (P35575)
M5R (p.Met5Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M5R (p.Met5Arg) variant details
- p.Met5Arg
- rs1250172816
- ClinGen CA399649725
- ClinVar RCV000671160
- ClinVar RCV004702297
- Pathogenic/Likely pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.92
- AlphaMissense 0.34
- MetaLR 0.67
- MetaSVM 0.47
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the African/African-American population (allele frequency 4.8e-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)