S229T (p.Ser229Thr) variant of SCN2A (Nav1.2)
S229T (p.Ser229Thr) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Infantile spasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
S229T (p.Ser229Thr) variant details
- p.Ser229Thr
- rs1553567561
- ClinGen CA349017591
- ClinVar RCV001034608
- Ensembl rs1553567561
- Likely pathogenic
- Infantile spasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- ESM-1b 0.00
- AlphaMissense 0.61
- ClinVar: Likely pathogenic (Infantile spasms)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available