I1310N (p.Ile1310Asn) variant of SCN4A (Nav1.4)
I1310N (p.Ile1310Asn) 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; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
I1310N (p.Ile1310Asn) variant details
- p.Ile1310Asn
- rs1567817380
- ClinGen CA400617144
- ClinVar RCV000699036
- ClinVar RCV002473118
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: Cold extends electromyography distinction between ion channel mutations causing myotonia. (PMID 16786525)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)