T92N (p.Thr92Asn) variant of SCN4A (Nav1.4)
T92N (p.Thr92Asn) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
T92N (p.Thr92Asn) variant details
- p.Thr92Asn
- gnomAD rs1183711503
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.91
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available