G53A (p.Gly53Ala) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G53A (p.Gly53Ala) in SLC5A2 (Sodium/glucose cotransporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- gnomAD 16-31484701-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 5.77
- Population evidence available
- Structural context available
- Literature evidence available