E44E (p.Glu44Glu) variant of SCN2A (Q99250)
E44E (p.Glu44Glu) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E44E (p.Glu44Glu) variant details
- p.Glu44Glu
- rs781272663
- gnomAD 2-165295955-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 6.69
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available