L18M (p.Leu18Met) variant of CLCNKB (Chloride channel protein ClC-Kb)
L18M (p.Leu18Met) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 1-16044544-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available