S1780I (p.Ser1780Ile) variant of SCN2A (Nav1.2)
S1780I (p.Ser1780Ile) 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 0.73 / 1. The record also includes structural context.
S1780I (p.Ser1780Ile) variant details
- p.Ser1780Ile
- rs796053163
- ClinGen CA318036
- ClinVar RCV001265490
- Ensembl rs796053163
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.90
- MetaSVM 0.80
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available