I28T (p.Ile28Thr) variant of SCN4A (Nav1.4)
I28T (p.Ile28Thr) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- ExAC rs748862924
- TOPMed rs748862924
- gnomAD rs748862924
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.79
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available