I78M (p.Ile78Met) variant of SCN4A (Nav1.4)
I78M (p.Ile78Met) 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.
I78M (p.Ile78Met) variant details
- p.Ile78Met
- TOPMed rs1382148081
- gnomAD rs1382148081
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- CADD 16.20
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available