A12A (p.Ala12Ala) variant of SCN1B (Q07699)
A12A (p.Ala12Ala) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 19-35030856-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available