L7P (p.Leu7Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L7P (p.Leu7Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 1-16044512-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.72
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available