G50V (p.Gly50Val) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G50V (p.Gly50Val) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 16-31484695-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.73
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available