L96R (p.Leu96Arg) variant of SCN4A (Nav1.4)
L96R (p.Leu96Arg) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L96R (p.Leu96Arg) variant details
- p.Leu96Arg
- TOPMed rs1301917689
- gnomAD rs1301917689
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.79
- CADD 28.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available