S12* (p.Ser12Ter) variant of CLCNKB (Chloride channel protein ClC-Kb)
S12* (p.Ser12Ter) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- gnomAD 1-16044527-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available