E29* (p.Glu29Ter) variant of SCN1B (Q07699)
E29* (p.Glu29Ter) in SCN1B (Q07699) 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 0.86 / 1. The record also includes population frequency data and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- ExAC rs767384862
- TOPMed rs767384862
- gnomAD rs767384862
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 39.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available