P71S (p.Pro71Ser) variant of SCN4A (Nav1.4)
P71S (p.Pro71Ser) 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 provided; Hyperkalemic periodic paralysis; Potassium-aggravated myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- rs187055074
- ClinGen CA8710256
- ClinVar RCV000713094
- ClinVar RCV000808350
- Conflicting interpretations
- not provided; Hyperkalemic periodic paralysis; Potassium-aggravated myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.54
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyperkalemic periodic paralysis; Potassium-aggrava)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)