E48E (p.Glu48Glu) variant of SCN1B (Q07699)
E48E (p.Glu48Glu) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD 19-35032631-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 11.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available