E44G (p.Glu44Gly) variant of SCN2A (Nav1.2)
E44G (p.Glu44Gly) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- cosmic curated COSV51854
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available