E57* (p.Glu57Ter) variant of SLC26A2 (Sulfate transporter)
E57* (p.Glu57Ter) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- gnomAD 5-149977821-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available