V8E (p.Val8Glu) variant of SCN1B (Q07699)
V8E (p.Val8Glu) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- gnomAD 19-35030843-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.76
- MetaSVM 0.12
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available