C45F (p.Cys45Phe) variant of SLC5A2 (Sodium/glucose cotransporter 2)
C45F (p.Cys45Phe) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C45F (p.Cys45Phe) variant details
- p.Cys45Phe
- gnomAD 16-31484680-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available