H9Q (p.His9Gln) variant of G6PC1 (P35575)
H9Q (p.His9Gln) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not sp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H9Q (p.His9Gln) variant details
- p.His9Gln
- rs1597986754
- ClinGen CA399649866
- ClinVar RCV002622572
- ClinVar RCV004066601
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not sp
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.30
- CADD 8.72
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)