E9K (p.Glu9Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E9K (p.Glu9Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- gnomAD 1-16044517-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available