Q54P (p.Gln54Pro) variant of G6PC1 (P35575)
Q54P (p.Gln54Pro) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q54P (p.Gln54Pro) variant details
- p.Gln54Pro
- rs1057517008
- ClinGen CA16041843
- ClinVar RCV000411603
- UniProt VAR 009203
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.52
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with… (PMID 10447271)
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)