E48* (p.Glu48Ter) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
E48* (p.Glu48Ter) in SLC9A3 (Sodium/hydrogen exchanger 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- TOPMed rs897639279
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.00
- Population evidence available
- Structural context available