R421H (p.Arg421His) variant of CLCN1 (Chloride channel protein 1)
R421H (p.Arg421His) 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 CLCN1-related disorder; Congenital myotonia, autosomal recessive form; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R421H (p.Arg421His) variant details
- p.Arg421His
- rs780834658
- ClinGen CA4537308
- ClinVar RCV000517508
- ClinVar RCV002267615
- Conflicting interpretations
- CLCN1-related disorder; Congenital myotonia, autosomal recessive form; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.68
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (CLCN1-related disorder; Congenital myotonia, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)