F1447S (p.Phe1447Ser) variant of SCN4A (Nav1.4)
F1447S (p.Phe1447Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital myopathy 22B, severe fetal. The record also includes structural context.
F1447S (p.Phe1447Ser) variant details
- p.Phe1447Ser
- rs2509285379
- ClinGen CA400616194
- ClinVar RCV003315479
- Likely pathogenic
- Congenital myopathy 22B, severe fetal
- Missense
- ClinVar: Likely pathogenic (Congenital myopathy 22B, severe fetal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available