V445L (p.Val445Leu) variant of SCN4A (Nav1.4)
V445L (p.Val445Leu) 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; SCN4A-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V445L (p.Val445Leu) variant details
- p.Val445Leu
- rs121908552
- ClinGen CA16043537
- ClinVar RCV000414792
- ClinVar RCV000415234
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis; SCN4A-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis; SCN4A-related disorder; not pro)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)