F94L (p.Phe94Leu) variant of SCN8A (Q9UQD0)
F94L (p.Phe94Leu) in SCN8A (Q9UQD0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F94L (p.Phe94Leu) variant details
- p.Phe94Leu
- gnomAD 12-51684176-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 29.40
- Population evidence available
- Structural context available
- Literature evidence available