T268M (p.Thr268Met) variant of CLCN1 (Chloride channel protein 1)
T268M (p.Thr268Met) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T268M (p.Thr268Met) variant details
- p.Thr268Met
- rs80356687
- ClinGen CA341551
- ClinVar RCV000497783
- ClinVar RCV000763168
- Pathogenic/Likely pathogenic
- CLCN1-related disorder; Congenital myotonia, autosomal dominant form; Congenital
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.88
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CLCN1-related disorder; Congenital myotonia, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)