E2K (p.Glu2Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E2K (p.Glu2Lys) 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, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 1-16044496-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.56
- CADD 25.20
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available