E3D (p.Glu3Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
E3D (p.Glu3Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs768510442
- ClinGen CA623135
- ClinVar RCV002904949
- ClinVar RCV003170574
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.15
- CADD 15.20
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)