D47E (p.Asp47Glu) variant of SLC37A4 (O43826)
D47E (p.Asp47Glu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- ESP rs373540523
- ExAC rs373540523
- TOPMed rs373540523
- gnomAD rs373540523
- Uncertain significance
- Glucose-6-phosphate transport defect; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 17.70
- PolyPhen-2 0.17
- SIFT 0.25
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available