F671C (p.Phe671Cys) variant of SCN4A (Nav1.4)
F671C (p.Phe671Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
F671C (p.Phe671Cys) variant details
- p.Phe671Cys
- rs772873287
- ClinGen CA8709690
- ClinVar RCV001198055
- ExAC rs772873287
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic (in MYOSCN4A)
- UniProt: Likely pathogenic (in MYOSCN4A)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)