M578I (p.Met578Ile) variant of CACNA1S (Q13698)
M578I (p.Met578Ile) 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 population frequency data, published literature, and structural context.
M578I (p.Met578Ile) variant details
- p.Met578Ile
- rs1572049461
- ClinGen CA344119936
- ClinVar RCV000986501
- TOPMed rs1572049461
- Likely pathogenic
- Hypokalemic periodic paralysis, type 1
- Missense
- ClinVar: Likely pathogenic (Hypokalemic periodic paralysis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)