A336E (p.Ala336Glu) variant of G6PC1 (P35575)
A336E (p.Ala336Glu) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.50 / 1. The record also includes published literature and structural context.
A336E (p.Ala336Glu) variant details
- p.Ala336Glu
- rs2056095097
- ClinGen CA399657572
- ClinVar RCV001215828
- Ensembl rs2056095097
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.85
- MetaLR 0.36
- MetaSVM -0.31
- PolyPhen-2 0.81
- SIFT 0.03
- EVE 0.73
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)