E1133D (p.Glu1133Asp) variant of SCN2A (Nav1.2)
E1133D (p.Glu1133Asp) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
E1133D (p.Glu1133Asp) variant details
- p.Glu1133Asp
- rs1700091023
- ClinGen CA349022082
- ClinVar RCV001265270
- ClinVar RCV003313203
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.66
- MetaSVM 0.19
- PolyPhen-2 0.36
- SIFT 0.22
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available