F484L (p.Phe484Leu) variant of CLCN1 (Chloride channel protein 1)
F484L (p.Phe484Leu) 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 not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. 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.
F484L (p.Phe484Leu) variant details
- p.Phe484Leu
- rs1312002847
- ClinGen CA369645393
- ClinVar RCV001382413
- ClinVar RCV002473287
- Pathogenic/Likely pathogenic
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)