W50* (p.Trp50Ter) variant of CLCNKB (Chloride channel protein ClC-Kb)
W50* (p.Trp50Ter) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W50* (p.Trp50Ter) variant details
- p.Trp50Ter
- gnomAD rs1253263367
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 43.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available