T255I (p.Thr255Ile) variant of G6PC1 (P35575)
T255I (p.Thr255Ile) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of G6PC1-related disorder; Glycogen storage disease due to glucose-6-phosphatase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T255I (p.Thr255Ile) variant details
- p.Thr255Ile
- rs2056092654
- ClinGen CA399656183
- NCI-TCGA Cosmic COSV5383
- ClinVar RCV001810537
- Pathogenic/Likely pathogenic
- G6PC1-related disorder; Glycogen storage disease due to glucose-6-phosphatase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.83
- MetaLR 0.54
- MetaSVM 0.19
- CADD 24.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (G6PC1-related disorder; Glycogen storage disease due to glucose-)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with… (PMID 15151508)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)