R33Q (p.Arg33Gln) variant of CLCNKB (Chloride channel protein ClC-Kb)
R33Q (p.Arg33Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs746767761
- ClinGen CA623156
- NCI-TCGA Cosmic COSV6516
- cosmic curated COSV65161
- Uncertain significance
- Bartter disease type 3; Bartter disease type 4B; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.16
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Bartter disease type 3; Bartter disease type 4B; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)