S940Y (p.Ser940Tyr) variant of SCN1A (Nav1.1)
S940Y (p.Ser940Tyr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Epilepsy. The record also includes variant effect predictions and structural context.
S940Y (p.Ser940Tyr) variant details
- p.Ser940Tyr
- NCI-TCGA Cosmic COSV5767
- cosmic curated COSV57671
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Epilepsy
- Missense
- MetaLR 0.98
- MetaSVM 1.04
- SIFT 0.00
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Epileps)
- UniProt: Likely pathogenic (in DRVT)
- Structural context available