E2E (p.Glu2Glu) variant of CLCNKB (Chloride channel protein ClC-Kb)
E2E (p.Glu2Glu) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 1-16044498-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 3.58
- Population evidence available
- Structural context available
- Literature evidence available