L18V (p.Leu18Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
L18V (p.Leu18Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 1-16044544-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available