Q19* (p.Gln19Ter) variant of CLCNKB (Chloride channel protein ClC-Kb)
Q19* (p.Gln19Ter) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- TOPMed rs1355997573
- gnomAD rs1355997573
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 36.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available