E20D (p.Glu20Asp) variant of SCN2A (Q99250)
E20D (p.Glu20Asp) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs1696477720
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- Structural context available