P19A (p.Pro19Ala) variant of SCN4A (Nav1.4)
P19A (p.Pro19Ala) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokale. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- rs772628295
- ClinGen CA8710297
- ClinVar RCV000818834
- ClinVar RCV004028992
- Conflicting interpretations
- Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokale
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.48
- CADD 19.20
- PolyPhen-2 0.05
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Potassium-aggravated myotonia; Paramyotonia congenita of Von Eul)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)