E37Q (p.Glu37Gln) variant of CLCNKB (Chloride channel protein ClC-Kb)
E37Q (p.Glu37Gln) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- gnomAD rs1252959928
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.18
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available