E3K (p.Glu3Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E3K (p.Glu3Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD rs1444724783
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.57
- CADD 25.20
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available