G68W (p.Gly68Trp) variant of SLC37A4 (O43826)
G68W (p.Gly68Trp) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G68W (p.Gly68Trp) variant details
- p.Gly68Trp
- TOPMed rs193302885
- gnomAD rs193302885
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available