P73L (p.Pro73Leu) variant of SCN4A (Nav1.4)
P73L (p.Pro73Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs75086141
- ClinGen CA8710253
- ClinVar RCV001308968
- ClinVar RCV001664819
- Conflicting interpretations
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.28
- CADD 21.60
- PolyPhen-2 0.16
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)