L1461P (p.Leu1461Pro) variant of SCN4A (Nav1.4)
L1461P (p.Leu1461Pro) 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 Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L1461P (p.Leu1461Pro) variant details
- p.Leu1461Pro
- rs2144774799
- ClinGen CA400616127
- ClinVar RCV003041322
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 0.31
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)