G23A (p.Gly23Ala) variant of CLCNKB (Chloride channel protein ClC-Kb)
G23A (p.Gly23Ala) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- gnomAD 1-16044556-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available