D58D (p.Asp58Asp) variant of SCN8A (Nav1.6)
D58D (p.Asp58Asp) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D58D (p.Asp58Asp) variant details
- p.Asp58Asp
- gnomAD 12-51662991-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 11.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available