E40E (p.Glu40Glu) variant of SCN2A (Q99250)
E40E (p.Glu40Glu) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 2-165295943-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 8.68
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available