D46N (p.Asp46Asn) variant of SCN2A (Nav1.2)
D46N (p.Asp46Asn) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- Ensembl rs962766268
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.91
- MetaSVM 0.95
- CADD 24.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available