A715T (p.Ala715Thr) variant of SCN4A (Nav1.4)
A715T (p.Ala715Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperkalemic periodic paralysis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A715T (p.Ala715Thr) variant details
- p.Ala715Thr
- rs749400108
- ClinGen CA8709651
- ClinVar RCV001904650
- ClinVar RCV004812418
- Conflicting interpretations
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hyperkalemic periodic paralysis; not provided)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Cold extends electromyography distinction between ion channel mutations causing myotonia. (PMID 16786525)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)