C45Y (p.Cys45Tyr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
C45Y (p.Cys45Tyr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C45Y (p.Cys45Tyr) variant details
- p.Cys45Tyr
- gnomAD 16-31484680-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.24
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available