F569L (p.Phe569Leu) variant of CACNA1S (Q13698)
F569L (p.Phe569Leu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypokalemic periodic paralysis, type 1. The record also includes published literature and structural context.
F569L (p.Phe569Leu) variant details
- p.Phe569Leu
- rs2464567071
- ClinGen CA344120095
- ClinVar RCV003314509
- Likely pathogenic
- Hypokalemic periodic paralysis, type 1
- Missense
- ClinVar: Likely pathogenic (Hypokalemic periodic paralysis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)