S47S (p.Ser47Ser) variant of SCN1B (Q07699)
S47S (p.Ser47Ser) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- rs769535020
- gnomAD 19-35032628-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.69
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available