I47V (p.Ile47Val) variant of SCN4A (Nav1.4)
I47V (p.Ile47Val) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I47V (p.Ile47Val) variant details
- p.Ile47Val
- TOPMed rs371825957
- gnomAD rs371825957
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.25
- CADD 12.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available