G50D (p.Gly50Asp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G50D (p.Gly50Asp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- gnomAD 16-31484695-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.60
- CADD 23.90
- PolyPhen-2 0.93
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available