N89S (p.Asn89Ser) variant of SCN4A (Nav1.4)
N89S (p.Asn89Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N89S (p.Asn89Ser) variant details
- p.Asn89Ser
- rs1358087685
- ClinGen CA400640126
- ClinVar RCV003136473
- gnomAD rs1358087685
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available