S11F (p.Ser11Phe) variant of CLCNKB (Chloride channel protein ClC-Kb)
S11F (p.Ser11Phe) 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 Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S11F (p.Ser11Phe) variant details
- p.Ser11Phe
- ExAC rs760357463
- gnomAD rs760357463
- Uncertain significance
- Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Bartter disease type 3; Bartter disease type 4B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available