A30A (p.Ala30Ala) variant of SCN1B (Q07699)
A30A (p.Ala30Ala) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs753994622
- gnomAD 19-35032577-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.17
- Population evidence available
- Structural context available
- Literature evidence available