L43V (p.Leu43Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
L43V (p.Leu43Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- ESP rs148698605
- ExAC rs148698605
- TOPMed rs148698605
- gnomAD rs148698605
- Uncertain significance
- not provided; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.41
- CADD 12.70
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Bartter disease type 3; Bartter disease type 4B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available