W50L (p.Trp50Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
W50L (p.Trp50Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
W50L (p.Trp50Leu) variant details
- p.Trp50Leu
- rs2023076796
- gnomAD 1-16045604-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 28.90
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available