R41Q (p.Arg41Gln) variant of SCN4A (Nav1.4)
R41Q (p.Arg41Gln) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- ExAC rs770640835
- TOPMed rs770640835
- gnomAD rs770640835
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available