R47W (p.Arg47Trp) variant of CLCN1 (Chloride channel protein 1)
R47W (p.Arg47Trp) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R47W (p.Arg47Trp) variant details
- p.Arg47Trp
- rs185031797
- ClinGen CA4536828
- ClinVar RCV000638251
- ClinVar RCV000714895
- Conflicting interpretations
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:NAXI population (allele frequency 0.14)
- 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)