D43E (p.Asp43Glu) variant of SCN2A (Q99250)
D43E (p.Asp43Glu) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- gnomAD 2-165295952-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM 0.03
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available