I47T (p.Ile47Thr) variant of SCN4A (Nav1.4)
I47T (p.Ile47Thr) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- ExAC rs777343229
- gnomAD rs777343229
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.30
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available