R27L (p.Arg27Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27L (p.Arg27Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Bartter disease type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- rs2015352
- ClinGen CA623148
- cosmic curated COSV65159
- ClinVar RCV000516547
- Benign
- not specified; not provided; Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.29
- CADD 18.60
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Benign (not specified; not provided; Bartter disease type 3)
- EBI: Benign (in dbSNP:rs2015352)
- UniProt: Benign (in dbSNP:rs2015352)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Two highly homologous members of the ClC chloride channel family in both rat and human kidney. (PMID 8041726)
- Cited in: Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. (PMID 8544406)