G54V (p.Gly54Val) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G54V (p.Gly54Val) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- gnomAD 16-31484707-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.94
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available