R496S (p.Arg496Ser) variant of CLCN1 (Chloride channel protein 1)
R496S (p.Arg496Ser) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R496S (p.Arg496Ser) variant details
- p.Arg496Ser
- rs121912801
- ClinGen CA258016
- ClinVar RCV000019087
- ClinVar RCV000692794
- Pathogenic
- CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.73
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Pathogenic (CLCN1-related disorder; Congenital myotonia, autosomal dominant)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal… (PMID 26502825)
- Cited in: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type… (PMID 7951242)