K76N (p.Lys76Asn) variant of G6PC1 (P35575)
K76N (p.Lys76Asn) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
K76N (p.Lys76Asn) variant details
- p.Lys76Asn
- rs2056023296
- ClinGen CA399651590
- ClinVar RCV001060511
- ClinVar RCV001268621
- Pathogenic
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available
- Cited in: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage… (PMID 10874313)
- Cited in: The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme… (PMID 12093795)