E3K (p.Glu3Lys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E3K (p.Glu3Lys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD 16-31483143-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.26
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available