G10C (p.Gly10Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
G10C (p.Gly10Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 1-16044520-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.72
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available