D48D (p.Asp48Asp) variant of SCN8A (Nav1.6)
D48D (p.Asp48Asp) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D48D (p.Asp48Asp) variant details
- p.Asp48Asp
- rs767914121
- gnomAD 12-51662961-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 10.90
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available