W70S (p.Trp70Ser) variant of G6PC1 (P35575)
W70S (p.Trp70Ser) 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 0.66 / 1. The record also includes published literature and structural context.
W70S (p.Trp70Ser) variant details
- p.Trp70Ser
- rs1567702823
- ClinGen CA399651450
- ClinVar RCV001580705
- gnomAD rs1567702823
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.65
- MetaLR 0.59
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic
- UniProt: 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)