G355R (p.Gly355Arg) variant of CLCN1 (Chloride channel protein 1)
G355R (p.Gly355Arg) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G355R (p.Gly355Arg) variant details
- p.Gly355Arg
- rs767000881
- ExAC rs767000881
- TOPMed rs767000881
- gnomAD rs767000881
- Pathogenic/Likely pathogenic
- Skeletal muscle channelopathy; CLCN1-related disorder; Congenital myotonia, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Skeletal muscle channelopathy; CLCN1-related disorder; Congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)