E47G (p.Glu47Gly) variant of SCN2A (Q99250)
E47G (p.Glu47Gly) in SCN2A (Q99250) 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.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- gnomAD 2-165295963-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.94
- MetaSVM 0.85
- CADD 26.40
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available