F94I (p.Phe94Ile) variant of SCN8A (Nav1.6)
F94I (p.Phe94Ile) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
F94I (p.Phe94Ile) variant details
- p.Phe94Ile
- gnomAD 12-51684177-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available