R30* (p.Arg30Ter) variant of CLCNKB (Chloride channel protein ClC-Kb)
R30* (p.Arg30Ter) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R30* (p.Arg30Ter) variant details
- p.Arg30Ter
- 1000Genomes rs200835418
- ExAC rs200835418
- TOPMed rs200835418
- gnomAD rs200835418
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available