E34* (p.Glu34Ter) variant of SCN9A (Q15858)
E34* (p.Glu34Ter) in SCN9A (Q15858) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- TOPMed rs1274442703
- gnomAD rs1274442703
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 34.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available