P79S (p.Pro79Ser) variant of SCN4A (Nav1.4)
P79S (p.Pro79Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P79S (p.Pro79Ser) variant details
- p.Pro79Ser
- rs376505442
- ClinGen CA8710248
- ClinVar RCV000964702
- ClinVar RCV001564401
- Conflicting interpretations
- Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.80
- CADD 25.00
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic pa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)