A367T (p.Ala367Thr) variant of SLC37A4 (O43826)
A367T (p.Ala367Thr) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glucose-6-phosphate transport defect; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A367T (p.Ala367Thr) variant details
- p.Ala367Thr
- rs80356492
- UniProt VAR 025602
- ExAC rs80356492
- TOPMed rs80356492
- Conflicting interpretations
- Glucose-6-phosphate transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.54
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Glucose-6-phosphate transport defect; not provided)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (PMID 10518030)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)