G482R (p.Gly482Arg) variant of CLCN1 (Chloride channel protein 1)
G482R (p.Gly482Arg) 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 recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G482R (p.Gly482Arg) variant details
- p.Gly482Arg
- rs746125212
- ClinGen CA4537375
- NCI-TCGA Cosmic COSV5836
- ClinVar RCV000019088
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PMID 8533761)
- Cited in: The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and… (PMID 10051520)