N53N (p.Asn53Asn) variant of SCN2A (Nav1.2)
N53N (p.Asn53Asn) in SCN2A (Nav1.2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N53N (p.Asn53Asn) variant details
- p.Asn53Asn
- gnomAD 2-165295982-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.73
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available