p.Ala24dup variant of SCN2A (Nav1.2)
p.Ala24dup in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala24dup variant details
- gnomAD 2-165295888-T-TTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 19.30
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available