H44H (p.His44His) variant of SCN8A (Nav1.6)
H44H (p.His44His) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H44H (p.His44His) variant details
- p.His44His
- gnomAD 12-51662949-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.45
- Population evidence available
- Structural context available
- Literature evidence available