F1705I (p.Phe1705Ile) variant of SCN4A (Nav1.4)
F1705I (p.Phe1705Ile) 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; Hyperkalemic periodic par. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
F1705I (p.Phe1705Ile) variant details
- p.Phe1705Ile
- rs1064794243
- ClinGen CA16620553
- ClinVar RCV000484046
- ClinVar RCV000654650
- Pathogenic/Likely pathogenic
- not provided; Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic par
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.39
- ClinVar: Pathogenic/Likely pathogenic (not provided; Paramyotonia congenita of Von Eulenburg; Hyperkale)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. (PMID 18690054)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)