D46E (p.Asp46Glu) variant of SCN2A (Nav1.2)
D46E (p.Asp46Glu) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- gnomAD 2-165295961-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.59
- MetaSVM -0.29
- CADD 12.80
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available