A11E (p.Ala11Glu) variant of SCN1B (Q07699)
A11E (p.Ala11Glu) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- gnomAD 19-35030852-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.79
- MetaSVM 0.15
- CADD 20.90
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available