E49G (p.Glu49Gly) variant of SCN4A (Nav1.4)
E49G (p.Glu49Gly) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- gnomAD rs1437988996
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available