L36W (p.Leu36Trp) variant of CLCNKB (Chloride channel protein ClC-Kb)
L36W (p.Leu36Trp) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L36W (p.Leu36Trp) variant details
- p.Leu36Trp
- gnomAD 1-16045561-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available