F26L (p.Phe26Leu) variant of SLC37A4 (O43826)
F26L (p.Phe26Leu) 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 0.62 / 1. The record also includes population frequency data and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- Ensembl rs1943675742
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available