E44Q (p.Glu44Gln) variant of SCN5A (Nav1.5)
E44Q (p.Glu44Gln) in SCN5A (Nav1.5) 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.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- cosmic curated COSV11496
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available