K90N (p.Lys90Asn) variant of SCN4A (Nav1.4)
K90N (p.Lys90Asn) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K90N (p.Lys90Asn) variant details
- p.Lys90Asn
- Ensembl rs1909647911
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.52
- CADD 22.40
- PolyPhen-2 0.33
- SIFT 0.02
- Population evidence available
- Structural context available