G13E (p.Gly13Glu) variant of CLCNKB (Chloride channel protein ClC-Kb)
G13E (p.Gly13Glu) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- gnomAD 1-16044528-AGG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available