L43I (p.Leu43Ile) variant of CLCNKB (Chloride channel protein ClC-Kb)
L43I (p.Leu43Ile) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- ESP rs148698605
- ExAC rs148698605
- TOPMed rs148698605
- gnomAD rs148698605
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.47
- CADD 12.60
- PolyPhen-2 0.19
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available