E48V (p.Glu48Val) variant of SLC2A10 (O95528)
E48V (p.Glu48Val) in SLC2A10 (O95528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E48V (p.Glu48Val) variant details
- p.Glu48Val
- gnomAD 20-46725179-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.83
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available