T365M (p.Thr365Met) variant of SCN2A (Nav1.2)
T365M (p.Thr365Met) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar 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 0.99 / 1. The record also includes structural context.
T365M (p.Thr365Met) variant details
- p.Thr365Met
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51837
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- UniProt: Likely pathogenic
- Structural context available