G270D (p.Gly270Asp) variant of G6PC1 (P35575)
G270D (p.Gly270Asp) 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 0.80 / 1. The record also includes published literature and structural context.
G270D (p.Gly270Asp) variant details
- p.Gly270Asp
- rs80356483
- ClinGen CA399656394
- ClinVar RCV002907903
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.90
- MetaLR 0.70
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic (in GSD1A)
- UniProt: Likely pathogenic (in GSD1A)
- 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)