A12V (p.Ala12Val) variant of SCN1B (Q07699)
A12V (p.Ala12Val) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 19-35030855-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.70
- MetaSVM 0.01
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available