E29E (p.Glu29Glu) variant of SCN1B (Q07699)
E29E (p.Glu29Glu) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- gnomAD 19-35032574-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available