S845P (p.Ser845Pro) variant of SCN8A (Nav1.6)
S845P (p.Ser845Pro) in SCN8A (Nav1.6) 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 0.99 / 1. The record also includes structural context.
S845P (p.Ser845Pro) variant details
- p.Ser845Pro
- rs1057518356
- ClinGen CA16042904
- ClinVar RCV000413870
- Ensembl rs1057518356
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available