R53C (p.Arg53Cys) variant of CLCN1 (Chloride channel protein 1)
R53C (p.Arg53Cys) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs767366093
- ClinGen CA4536837
- ClinVar RCV001158331
- ClinVar RCV001195830
- Uncertain significance
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.38
- CADD 13.60
- PolyPhen-2 0.42
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)