W64R (p.Trp64Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
W64R (p.Trp64Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial renal glucosuria; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
W64R (p.Trp64Arg) variant details
- p.Trp64Arg
- 1000Genomes rs76577328
- ExAC rs76577328
- TOPMed rs76577328
- gnomAD rs76577328
- Uncertain significance
- Familial renal glucosuria; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.91
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial renal glucosuria; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available