F98L (p.Phe98Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
F98L (p.Phe98Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
F98L (p.Phe98Leu) variant details
- p.Phe98Leu
- rs398122802
- ClinGen CA128704
- ClinVar RCV000022763
- TOPMed rs398122802
- Pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.67
- ClinVar: Pathogenic (Familial renal glucosuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. (PMID 21165652)