A12S (p.Ala12Ser) variant of SCN1B (Q07699)
A12S (p.Ala12Ser) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 19-35030854-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.72
- MetaSVM 0.12
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available