L109F (p.Leu109Phe) variant of SLC37A4 (O43826)
L109F (p.Leu109Phe) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L109F (p.Leu109Phe) variant details
- p.Leu109Phe
- ExAC rs782107994
- gnomAD rs782107994
- Uncertain significance
- Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect; Congenital disorder of gly)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available