G233S (p.Gly233Ser) variant of CLCN1 (Chloride channel protein 1)
G233S (p.Gly233Ser) 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 recessive form; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G233S (p.Gly233Ser) variant details
- p.Gly233Ser
- rs139039122
- ClinGen CA168257695
- ClinVar RCV000991827
- ClinVar RCV000995507
- Pathogenic/Likely pathogenic
- CLCN1-related disorder; Congenital myotonia, autosomal recessive form; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (CLCN1-related disorder; Congenital myotonia, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)