E37K (p.Glu37Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E37K (p.Glu37Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- gnomAD 1-16045566-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.34
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available