R5W (p.Arg5Trp) variant of CLCN1 (Chloride channel protein 1)
R5W (p.Arg5Trp) 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 Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs1322496244
- ClinGen CA369676375
- ClinVar RCV000605421
- ClinVar RCV001860307
- Conflicting interpretations
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.33
- CADD 15.70
- PolyPhen-2 0.17
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-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)