V75F (p.Val75Phe) variant of SCN4A (Nav1.4)
V75F (p.Val75Phe) 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. The record also includes published literature and structural context.
V75F (p.Val75Phe) variant details
- p.Val75Phe
- rs1909649961
- ClinGen CA400640214
- ClinVar RCV001992273
- Ensembl rs1909649961
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)