D25H (p.Asp25His) variant of SCN1B (Q07699)
D25H (p.Asp25His) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D25H (p.Asp25His) variant details
- p.Asp25His
- gnomAD 19-35032560-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.83
- MetaLR 0.92
- MetaSVM 0.94
- CADD 28.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available