F31L (p.Phe31Leu) variant of SLC37A4 (O43826)
F31L (p.Phe31Leu) 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 0.63 / 1. The record also includes population frequency data and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- TOPMed rs955402383
- gnomAD rs955402383
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available