T108I (p.Thr108Ile) variant of G6PC1 (P35575)
T108I (p.Thr108Ile) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T108I (p.Thr108Ile) variant details
- p.Thr108Ile
- rs1597988331
- ClinGen CA399653442
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 1.00
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with… (PMID 10447271)
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)