I141V (p.Ile141Val) variant of SCN4A (Nav1.4)
I141V (p.Ile141Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
I141V (p.Ile141Val) variant details
- p.Ile141Val
- rs121908561
- ClinGen CA117856
- ClinVar RCV000006287
- UniProt VAR 054934
- Pathogenic
- Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- MutPred 0.86
- ClinVar: Pathogenic (Paramyotonia congenita of Von Eulenburg)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. (PMID 19015483)
- Cited in: Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. (PMID 10218481)