F18S (p.Phe18Ser) variant of SLC37A4 (O43826)
F18S (p.Phe18Ser) 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 0.55 / 1. The record also includes population frequency data and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- 1000Genomes rs560764004
- ExAC rs560764004
- TOPMed rs560764004
- gnomAD rs560764004
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 27.80
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.015)
- Structural context available