E20G (p.Glu20Gly) variant of CLCNKB (Chloride channel protein ClC-Kb)
E20G (p.Glu20Gly) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- gnomAD 1-16044551-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.67
- CADD 26.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available