A56D (p.Ala56Asp) variant of G6PC1 (P35575)
A56D (p.Ala56Asp) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
A56D (p.Ala56Asp) variant details
- p.Ala56Asp
- rs2056022671
- ClinGen CA399651030
- ClinVar RCV003845012
- ClinVar RCV005844322
- Uncertain significance
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.12
- MetaLR 0.23
- MetaSVM -0.75
- PolyPhen-2 0.62
- SIFT 0.26
- EVE 0.16
- ClinVar: Uncertain significance (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)