W433R (p.Trp433Arg) variant of CLCN1 (Chloride channel protein 1)
W433R (p.Trp433Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W433R (p.Trp433Arg) variant details
- p.Trp433Arg
- rs1027814542
- ClinGen CA168214377
- ClinVar RCV000691234
- ClinVar RCV001662756
- Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)