T16A (p.Thr16Ala) variant of G6PC1 (P35575)
T16A (p.Thr16Ala) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- rs761839506
- ClinGen CA8587482
- ClinVar RCV003123371
- UniProt VAR 046250
- Conflicting interpretations
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.49
- CADD 23.00
- PolyPhen-2 0.53
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with… (PMID 10738005)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)