V52L (p.Val52Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
V52L (p.Val52Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- gnomAD 16-31484700-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.41
- CADD 18.80
- PolyPhen-2 0.13
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available