E41G (p.Glu41Gly) variant of SLC37A4 (O43826)
E41G (p.Glu41Gly) 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 0.64 / 1. The record also includes population frequency data and structural context.
E41G (p.Glu41Gly) variant details
- p.Glu41Gly
- ExAC rs782470624
- gnomAD rs782470624
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 29.50
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available