Q27H (p.Gln27His) variant of G6PC1 (P35575)
Q27H (p.Gln27His) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Glycogen storage disease due to glucose-6-phosphata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- rs371611000
- ClinGen CA8587485
- ClinVar RCV000397508
- ClinVar RCV003736717
- Uncertain significance
- not specified; not provided; Glycogen storage disease due to glucose-6-phosphata
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.67
- SIFT 0.21
- ClinVar: Uncertain significance (not specified; not provided; Glycogen storage disease due to glu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)