E48E (p.Glu48Glu) variant of CLCNKB (Chloride channel protein ClC-Kb)
E48E (p.Glu48Glu) in CLCNKB (Chloride channel protein ClC-Kb) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs2023076642
- gnomAD 1-16045601-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 8.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available