L7A (p.Leu7Ala) variant of CLCNKB (Chloride channel protein ClC-Kb)
L7A (p.Leu7Ala) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L7A (p.Leu7Ala) variant details
- p.Leu7Ala
- rs953686324
- gnomAD 1-16044506-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available