A23A (p.Ala23Ala) variant of SCN2A (Nav1.2)
A23A (p.Ala23Ala) in SCN2A (Nav1.2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs773988733
- gnomAD 2-165295892-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 13.30
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available