L18P (p.Leu18Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L18P (p.Leu18Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 1-16044545-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.68
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available