E2D (p.Glu2Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
E2D (p.Glu2Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- 1000Genomes rs536104811
- gnomAD rs536104811
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.39
- CADD 22.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available