Q552R (p.Gln552Arg) variant of CLCN1 (Chloride channel protein 1)
Q552R (p.Gln552Arg) 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 Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Q552R (p.Gln552Arg) variant details
- p.Gln552Arg
- rs80356696
- ClinGen CA127249
- ClinVar RCV000019090
- ClinVar RCV000020103
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.91
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD and MCAR)
- UniProt: Pathogenic (in MCAD and MCAR)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: A novel alteration of muscle chloride channel gating in myotonia levior. (PMID 12456816)
- Cited in: Myotonia levior is a chloride channel disorder. (PMID 7581380)