F413C (p.Phe413Cys) variant of CLCN1 (Chloride channel protein 1)
F413C (p.Phe413Cys) 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 Skeletal muscle channelopathy; CLCN1-related disorder; Congenital myotonia, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F413C (p.Phe413Cys) variant details
- p.Phe413Cys
- rs121912799
- ClinGen CA258010
- ClinVar RCV000019083
- ClinVar RCV000184008
- Pathogenic/Likely pathogenic
- Skeletal muscle channelopathy; CLCN1-related disorder; Congenital myotonia, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Skeletal muscle channelopathy; CLCN1-related disorder; Congenita)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- Cited in: The skeletal muscle chloride channel in dominant and recessive human myotonia. (PMID 1379744)
- Cited in: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type… (PMID 7951242)