T8I (p.Thr8Ile) variant of SCN4A (Nav1.4)
T8I (p.Thr8Ile) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- TOPMed rs1909660210
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.16
- CADD 7.27
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available