R47Q (p.Arg47Gln) variant of CLCN1 (Chloride channel protein 1)
R47Q (p.Arg47Gln) 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 Inborn genetic diseases; Congenital myotonia, autosomal recessive form; Congenit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs747166328
- ClinGen CA4536829
- ClinVar RCV002962314
- ClinVar RCV003146697
- Uncertain significance
- Inborn genetic diseases; Congenital myotonia, autosomal recessive form; Congenit
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.18
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital myotonia, autosomal recessiv)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)