A12E (p.Ala12Glu) variant of SCN1B (Q07699)
A12E (p.Ala12Glu) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- gnomAD 19-35030855-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.82
- MetaSVM 0.34
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available