F108S (p.Phe108Ser) variant of SLC37A4 (O43826)
F108S (p.Phe108Ser) 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.
F108S (p.Phe108Ser) variant details
- p.Phe108Ser
- TOPMed rs1210339491
- gnomAD rs1210339491
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available