D46D (p.Asp46Asp) variant of SCN2A (Nav1.2)
D46D (p.Asp46Asp) in SCN2A (Nav1.2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D46D (p.Asp46Asp) variant details
- p.Asp46Asp
- rs145233994
- gnomAD 2-165295961-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 8.54
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available