E3A (p.Glu3Ala) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E3A (p.Glu3Ala) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- gnomAD 16-31483144-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.21
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available