C254W (p.Cys254Trp) variant of CLCN1 (Chloride channel protein 1)
C254W (p.Cys254Trp) 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 Batten-Turner congenital myopathy; Congenital myotonia, autosomal recessive form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C254W (p.Cys254Trp) variant details
- p.Cys254Trp
- rs772027125
- ClinGen CA4537072
- ClinVar RCV000822037
- ClinVar RCV001836901
- Pathogenic/Likely pathogenic
- Batten-Turner congenital myopathy; Congenital myotonia, autosomal recessive form
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.56
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Batten-Turner congenital myopathy; Congenital myotonia, autosoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)