A715P (p.Ala715Pro) variant of SCN4A (Nav1.4)
A715P (p.Ala715Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
A715P (p.Ala715Pro) variant details
- p.Ala715Pro
- rs749400108
- ClinGen CA400630978
- ClinVar RCV001370510
- ExAC rs749400108
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)