I237N (p.Ile237Asn) variant of SCN2A (Nav1.2)
I237N (p.Ile237Asn) 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 1.00 / 1. The record also includes structural context.
I237N (p.Ile237Asn) variant details
- p.Ile237Asn
- rs1697360061
- ClinGen CA349017774
- ClinVar RCV001265415
- Ensembl rs1697360061
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available