A58E (p.Ala58Glu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A58E (p.Ala58Glu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A58E (p.Ala58Glu) variant details
- p.Ala58Glu
- gnomAD 16-31484719-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available