I28V (p.Ile28Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
I28V (p.Ile28Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- gnomAD 1-16044574-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.14
- CADD 0.86
- PolyPhen-2 0.00
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available