A65P (p.Ala65Pro) variant of G6PC1 (P35575)
A65P (p.Ala65Pro) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.77 / 1. The record also includes published literature and structural context.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- rs369472089
- ClinGen CA399651288
- ClinVar RCV000824106
- UniProt VAR 046253
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.89
- MetaLR 0.68
- MetaSVM 0.50
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available
- Cited in: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID 12373566)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)