S43Y (p.Ser43Tyr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
S43Y (p.Ser43Tyr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S43Y (p.Ser43Tyr) variant details
- p.Ser43Tyr
- gnomAD 16-31484674-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available