E20K (p.Glu20Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E20K (p.Glu20Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- gnomAD 1-16044550-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.55
- CADD 22.00
- PolyPhen-2 0.16
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available