G6W (p.Gly6Trp) variant of CLCNKB (Chloride channel protein ClC-Kb)
G6W (p.Gly6Trp) 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.
G6W (p.Gly6Trp) variant details
- p.Gly6Trp
- gnomAD 1-16044508-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.61
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available