A58T (p.Ala58Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A58T (p.Ala58Thr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- gnomAD 16-31484718-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.89
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available