V33E (p.Val33Glu) variant of G6PC1 (P35575)
V33E (p.Val33Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V33E (p.Val33Glu) variant details
- p.Val33Glu
- rs778314834
- ClinGen CA8587489
- ClinVar RCV003513446
- ExAC rs778314834
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.83
- CADD 24.40
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)