A7G (p.Ala7Gly) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A7G (p.Ala7Gly) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- gnomAD 16-31483156-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.13
- CADD 10.60
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available