K40M (p.Lys40Met) variant of CLCNKB (Chloride channel protein ClC-Kb)
K40M (p.Lys40Met) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K40M (p.Lys40Met) variant details
- p.Lys40Met
- gnomAD 1-16045576-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available