T550R (p.Thr550Arg) variant of CLCN1 (Chloride channel protein 1)
T550R (p.Thr550Arg) 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 Congenital myotonia, autosomal recessive form; not provided; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T550R (p.Thr550Arg) variant details
- p.Thr550Arg
- rs762754992
- ClinGen CA369646480
- ClinVar RCV001312154
- ClinVar RCV003770636
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; not provided; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; not provided; Con)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)