I341N (p.Ile341Asn) variant of G6PC1 (P35575)
I341N (p.Ile341Asn) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I341N (p.Ile341Asn) variant details
- p.Ile341Asn
- rs387906505
- ClinGen CA256191
- ClinVar RCV000012789
- UniProt VAR 005254
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.80
- MetaLR 0.58
- MetaSVM 0.29
- CADD 28.70
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. (PMID 9001800)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)