S9W (p.Ser9Trp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
S9W (p.Ser9Trp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S9W (p.Ser9Trp) variant details
- p.Ser9Trp
- 1000Genomes rs564249983
- ExAC rs564249983
- TOPMed rs564249983
- gnomAD rs564249983
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.32
- CADD 15.60
- PolyPhen-2 0.26
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available