Q73E (p.Gln73Glu) variant of SLC37A4 (O43826)
Q73E (p.Gln73Glu) 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 0.72 / 1. The record also includes population frequency data and structural context.
Q73E (p.Gln73Glu) variant details
- p.Gln73Glu
- Ensembl rs1555191604
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available