P72L (p.Pro72Leu) variant of SCN4A (Nav1.4)
P72L (p.Pro72Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs1303471186
- ClinGen CA400640230
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV001318011
- Uncertain significance
- Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myast
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; Potassium-aggravated myotonia;)
- EBI: Variant of uncertain significance (the patient carries a disease-causing CCTG repeat expansion in C)
- UniProt: Uncertain significance (the patient carries a disease-causing CCTG repeat expansion in C)
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Cited in: SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. (PMID 25660391)
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)