F453L (p.Phe453Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
F453L (p.Phe453Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F453L (p.Phe453Leu) variant details
- p.Phe453Leu
- TOPMed rs1303484509
- gnomAD rs1303484509
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.70
- CADD 19.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- UniProt: Likely pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available