C18C (p.Cys18Cys) variant of SCN1B (Q07699)
C18C (p.Cys18Cys) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C18C (p.Cys18Cys) variant details
- p.Cys18Cys
- rs1005312276
- gnomAD 19-35032541-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 5.63
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available