C1209R (p.Cys1209Arg) variant of SCN4A (Nav1.4)
C1209R (p.Cys1209Arg) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital myasthenic syndrome 16. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C1209R (p.Cys1209Arg) variant details
- p.Cys1209Arg
- rs1598406692
- ClinGen CA400617882
- ClinVar RCV000995862
- Ensembl rs1598406692
- Pathogenic
- Congenital myasthenic syndrome 16
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.56
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Congenital myasthenic syndrome 16)
- EBI: Pathogenic (in CMYO22A)
- UniProt: Pathogenic (in CMYO22A)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)