S57L (p.Ser57Leu) variant of SLC37A4 (O43826)
S57L (p.Ser57Leu) 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 0.74 / 1. The record also includes population frequency data and structural context.
S57L (p.Ser57Leu) variant details
- p.Ser57Leu
- ESP rs374848317
- ExAC rs374848317
- TOPMed rs374848317
- gnomAD rs374848317
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 25.00
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available