L7L (p.Leu7Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
L7L (p.Leu7Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous 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.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs1213749912
- gnomAD 1-16044511-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 8.40
- Population evidence available
- Structural context available
- Literature evidence available