L43P (p.Leu43Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L43P (p.Leu43Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 1-16045584-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 23.60
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available