R338Q (p.Arg338Gln) variant of CLCN1 (Chloride channel protein 1)
R338Q (p.Arg338Gln) 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 CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R338Q (p.Arg338Gln) variant details
- p.Arg338Gln
- rs80356703
- ClinGen CA341533
- NCI-TCGA Cosmic COSV5836
- ClinVar RCV000517885
- Pathogenic/Likely pathogenic
- CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (CLCN1-related disorder; Congenital myotonia, autosomal dominant)
- EBI: Pathogenic (in MCAD and MCAR)
- UniProt: Pathogenic (in MCAD and MCAR)
- Population evidence available
- Structural context available
- Cited in: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. (PMID 7874130)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)