D47D (p.Asp47Asp) variant of SCN8A (Nav1.6)
D47D (p.Asp47Asp) 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.
D47D (p.Asp47Asp) variant details
- p.Asp47Asp
- rs149013279
- gnomAD 12-51662958-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.71
- Most common in the 1KG:YRI population (allele frequency 0.013)
- Structural context available
- Literature evidence available