A12G (p.Ala12Gly) variant of SCN1B (Q07699)
A12G (p.Ala12Gly) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD 19-35030855-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.79
- MetaSVM 0.27
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available