R170Q (p.Arg170Gln) variant of G6PC1 (P35575)
R170Q (p.Arg170Gln) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R170Q (p.Arg170Gln) variant details
- p.Arg170Gln
- rs750470654
- NCI-TCGA Cosmic COSV5383
- UniProt VAR 046261
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme… (PMID 12093795)
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)