T21I (p.Thr21Ile) variant of SCN4A (Nav1.4)
T21I (p.Thr21Ile) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- ExAC rs778680199
- gnomAD rs778680199
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.68
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available