E1880D (p.Glu1880Asp) variant of SCN2A (Nav1.2)
E1880D (p.Glu1880Asp) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
E1880D (p.Glu1880Asp) variant details
- p.Glu1880Asp
- rs2105403544
- ClinGen CA349039624
- ClinVar RCV001847363
- Ensembl rs2105403544
- Pathogenic
- West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 0.92
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Pathogenic (West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available