C18* (p.Cys18Ter) variant of SCN1B (Q07699)
C18* (p.Cys18Ter) in SCN1B (Q07699) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C18* (p.Cys18Ter) variant details
- p.Cys18Ter
- gnomAD rs1005312276
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 31.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available