E38* (p.Glu38Ter) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
E38* (p.Glu38Ter) in SLC9A3 (Sodium/hydrogen exchanger 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E38* (p.Glu38Ter) variant details
- p.Glu38Ter
- TOPMed rs1554001433
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available