I1160V (p.Ile1160Val) variant of SCN4A (Nav1.4)
I1160V (p.Ile1160Val) 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; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
I1160V (p.Ile1160Val) variant details
- p.Ile1160Val
- rs121908549
- ClinGen CA117843
- ClinVar RCV000006269
- ClinVar RCV000497702
- Pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.54
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 0.83
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic… (PMID 8058156)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)