E49Q (p.Glu49Gln) variant of SCN4A (Nav1.4)
E49Q (p.Glu49Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- ESP rs368011562
- ExAC rs368011562
- TOPMed rs368011562
- gnomAD rs368011562
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.48
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available