Q7* (p.Gln7Ter) variant of CLCN1 (Chloride channel protein 1)
Q7* (p.Gln7Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs2487015049
- ClinGen CA369676406
- ClinVar RCV003794847
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 34.00
- 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)