N1779S (p.Asn1779Ser) variant of SCN1A (Nav1.1)
N1779S (p.Asn1779Ser) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant epilepsy; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
N1779S (p.Asn1779Ser) variant details
- p.Asn1779Ser
- rs797045940
- ClinGen CA208252
- ClinVar RCV000194223
- ClinVar RCV001192960
- Pathogenic/Likely pathogenic
- Autosomal dominant epilepsy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant epilepsy; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available