L703P (p.Leu703Pro) variant of SCN4A (Nav1.4)
L703P (p.Leu703Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L703P (p.Leu703Pro) variant details
- p.Leu703Pro
- rs2144793242
- ClinGen CA400631124
- ClinVar RCV001374643
- Ensembl rs2144793242
- Likely pathogenic
- Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.84
- ClinVar: Likely pathogenic (Paramyotonia congenita of Von Eulenburg)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)