E48K (p.Glu48Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E48K (p.Glu48Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- ExAC rs769604665
- TOPMed rs769604665
- gnomAD rs769604665
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.82
- CADD 26.60
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available