V5G (p.Val5Gly) variant of CLCNKB (Chloride channel protein ClC-Kb)
V5G (p.Val5Gly) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- gnomAD 1-16044505-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available