W16* (p.Trp16Ter) variant of CLCN1 (Chloride channel protein 1)
W16* (p.Trp16Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- rs769092535
- ClinGen CA4536806
- ClinVar RCV001868856
- ClinVar RCV004546671
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 9.3e-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)