Q43* (p.Gln43Ter) variant of CLCN1 (Chloride channel protein 1)
Q43* (p.Gln43Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MCAR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- rs563275093
- ClinGen CA4536826
- ClinVar RCV003805267
- ClinVar RCV005409963
- Pathogenic
- in MCAR
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 35.00
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)