G47D (p.Gly47Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
G47D (p.Gly47Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- ExAC rs781091568
- TOPMed rs781091568
- gnomAD rs781091568
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.78
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available