I1455S (p.Ile1455Ser) variant of SCN4A (Nav1.4)
I1455S (p.Ile1455Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I1455S (p.Ile1455Ser) variant details
- p.Ile1455Ser
- rs377176361
- ClinGen CA400616157
- ClinVar RCV000516219
- ClinVar RCV006463222
- Conflicting interpretations
- not specified; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)