G1245S (p.Gly1245Ser) variant of SCN4A (Nav1.4)
G1245S (p.Gly1245Ser) 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 myasthenic syndrome 16. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G1245S (p.Gly1245Ser) variant details
- p.Gly1245Ser
- rs1908668408
- ClinGen CA400617633
- ClinVar RCV003447706
- Ensembl rs1908668408
- Likely pathogenic
- Congenital myasthenic syndrome 16
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 16)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)