N215S (p.Asn215Ser) variant of SCN8A (Nav1.6)
N215S (p.Asn215Ser) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cognitive impairment with or without cerebellar ataxia. 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.
N215S (p.Asn215Ser) variant details
- p.Asn215Ser
- TOPMed rs1435940285
- gnomAD rs1435940285
- Likely pathogenic
- Cognitive impairment with or without cerebellar ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.95
- MetaSVM 1.09
- CADD 22.90
- ClinVar: Likely pathogenic (Cognitive impairment with or without cerebellar ataxia)
- EBI: uncertain significance (in DEE13)
- UniProt: Uncertain significance (in DEE13)
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available