E48D (p.Glu48Asp) variant of SCN1B (Q07699)
E48D (p.Glu48Asp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- gnomAD 19-35032631-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.11
- MetaSVM -1.02
- CADD 25.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available