N264K (p.Asn264Lys) variant of G6PC1 (P35575)
N264K (p.Asn264Lys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N264K (p.Asn264Lys) variant details
- p.Asn264Lys
- rs1555560149
- ClinGen CA399656309
- ClinVar RCV000670966
- Ensembl rs1555560149
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.67
- MetaLR 0.59
- MetaSVM 0.11
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease… (PMID 9506659)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)