L198P (p.Leu198Pro) variant of CLCN1 (Chloride channel protein 1)
L198P (p.Leu198Pro) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The record also includes published literature and structural context.
L198P (p.Leu198Pro) variant details
- p.Leu198Pro
- rs1347382107
- ClinGen CA369684421
- ClinVar RCV000711237
- ClinVar RCV001861960
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Structural context available
- Cited in: ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype… (PMID 26096614)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)