L689F (p.Leu689Phe) variant of SCN4A (Nav1.4)
L689F (p.Leu689Phe) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L689F (p.Leu689Phe) variant details
- p.Leu689Phe
- rs80338955
- ClinGen CA400631288
- ClinVar RCV000761999
- ClinVar RCV001807649
- Pathogenic/Likely pathogenic
- not provided; Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.14
- PolyPhen-2 0.80
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (not provided; Paramyotonia congenita of Von Eulenburg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)