M560T (p.Met560Thr) variant of CLCN1 (Chloride channel protein 1)
M560T (p.Met560Thr) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M560T (p.Met560Thr) variant details
- p.Met560Thr
- rs1269268607
- ClinGen CA369646543
- ClinVar RCV001203792
- ClinVar RCV002245868
- Pathogenic
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- 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)