H9R (p.His9Arg) variant of G6PC1 (P35575)
H9R (p.His9Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.56 / 1. The record also includes population frequency data and structural context.
H9R (p.His9Arg) variant details
- p.His9Arg
- ExAC rs770007378
- TOPMed rs770007378
- gnomAD rs770007378
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available