T16R (p.Thr16Arg) variant of G6PC1 (P35575)
T16R (p.Thr16Arg) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T16R (p.Thr16Arg) variant details
- p.Thr16Arg
- rs1555558914
- ClinGen CA399650038
- ClinVar RCV000670061
- UniProt VAR 046251
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.57
- CADD 24.20
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. (PMID 15542400)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)