F44Y (p.Phe44Tyr) variant of CLCNKB (Chloride channel protein ClC-Kb)
F44Y (p.Phe44Tyr) 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 Inborn genetic diseases; Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F44Y (p.Phe44Tyr) variant details
- p.Phe44Tyr
- ExAC rs777700978
- TOPMed rs777700978
- gnomAD rs777700978
- Uncertain significance
- Inborn genetic diseases; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.63
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Bartter disease type 3; Bartter disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available