P19L (p.Pro19Leu) variant of SCN4A (Nav1.4)
P19L (p.Pro19Leu) 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 specified; Inborn genetic diseases; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs745506979
- ClinGen CA8710296
- ClinVar RCV002240082
- ClinVar RCV006372723
- Uncertain significance
- not specified; Inborn genetic diseases; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.45
- CADD 19.70
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; Hyperkalemic periodic pa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)