Q44E (p.Gln44Glu) variant of SCN4A (Nav1.4)
Q44E (p.Gln44Glu) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- gnomAD rs1239112997
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.30
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available