N1339D (p.Asn1339Asp) variant of SCN2A (Nav1.2)
N1339D (p.Asn1339Asp) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy; West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
N1339D (p.Asn1339Asp) variant details
- p.Asn1339Asp
- rs2105373027
- ClinGen CA349030307
- ClinVar RCV001847352
- ClinVar RCV002319727
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available