H119R (p.His119Arg) variant of G6PC1 (P35575)
H119R (p.His119Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
H119R (p.His119Arg) variant details
- p.His119Arg
- rs1401928680
- ClinGen CA399653742
- ClinVar RCV002237490
- ClinVar RCV003403738
- Conflicting interpretations
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not sp
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (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: 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)