L64V (p.Leu64Val) variant of SCN4A (Nav1.4)
L64V (p.Leu64Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L64V (p.Leu64Val) variant details
- p.Leu64Val
- rs1480788895
- ClinGen CA400640281
- ClinVar RCV001873000
- ClinVar RCV003247084
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.67
- CADD 22.80
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)