E31D (p.Glu31Asp) variant of SCN2A (Q99250)
E31D (p.Glu31Asp) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- gnomAD rs1696479768
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.57
- ESM-1b 0.27
- AlphaMissense 0.18
- MetaLR 0.92
- MetaSVM 0.99
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available