I693T (p.Ile693Thr) variant of SCN4A (Nav1.4)
I693T (p.Ile693Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.91 / 1. The record also includes published literature and structural context.
I693T (p.Ile693Thr) variant details
- p.Ile693Thr
- rs80338956
- ClinGen CA117855
- ClinVar RCV000006286
- ClinVar RCV000020266
- Pathogenic
- not provided; Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic par
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (not provided; Paramyotonia congenita of Von Eulenburg; Hyperkale)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype. (PMID 19015492)
- Cited in: Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. (PMID 20076800)