L46P (p.Leu46Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L46P (p.Leu46Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- gnomAD rs1354106899
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.46
- CADD 19.10
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available