R295C (p.Arg295Cys) variant of G6PC1 (P35575)
R295C (p.Arg295Cys) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R295C (p.Arg295Cys) variant details
- p.Arg295Cys
- rs104894563
- ClinGen CA256178
- ClinVar RCV000012779
- ClinVar RCV000725438
- Pathogenic/Likely pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.70
- MetaLR 0.65
- MetaSVM 0.39
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- 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 Non-Finnish European population (allele frequency 3e-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: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage… (PMID 10874313)