R5Q (p.Arg5Gln) variant of CLCN1 (Chloride channel protein 1)
R5Q (p.Arg5Gln) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- rs201327261
- ClinGen CA4536799
- ClinVar RCV003090936
- ClinVar RCV005323329
- Uncertain significance
- Inborn genetic diseases; Congenital myotonia, autosomal recessive form; Congenit
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.14
- CADD 3.00
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital myotonia, autosomal recessiv)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)