A6A (p.Ala6Ala) variant of SCN1B (Q07699)
A6A (p.Ala6Ala) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- gnomAD 19-35030838-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 2.6e-06)
- Structural context available
- Literature evidence available