R33* (p.Arg33Ter) variant of CLCNKB (Chloride channel protein ClC-Kb)
R33* (p.Arg33Ter) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- ESP rs374439723
- ExAC rs374439723
- gnomAD rs374439723
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 36.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available