L439P (p.Leu439Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
L439P (p.Leu439Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.81 / 1. The record also includes population frequency data and structural context.
L439P (p.Leu439Pro) variant details
- p.Leu439Pro
- rs139909733
- ClinGen CA623814
- ClinVar RCV003562211
- ClinVar RCV005047675
- Likely pathogenic
- not provided; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.92
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Bartter disease type 3; Bartter disease type 4B)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available