R27G (p.Arg27Gly) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27G (p.Arg27Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs370236747
- ClinGen CA338629954
- ClinVar RCV004444290
- ESP rs370236747
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.37
- CADD 17.60
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs2015352)
- UniProt: Uncertain significance (in dbSNP:rs2015352)
- 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)