C277R (p.Cys277Arg) variant of CLCN1 (Chloride channel protein 1)
C277R (p.Cys277Arg) 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 recessive form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C277R (p.Cys277Arg) variant details
- p.Cys277Arg
- rs757109632
- ClinGen CA4537130
- ClinVar RCV001780789
- ClinVar RCV002544260
- Pathogenic/Likely pathogenic
- not provided; Congenital myotonia, autosomal recessive form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital myotonia, autosomal recessive form; Con)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. (PMID 22641783)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)