E50Q (p.Glu50Gln) variant of CEBPE (Q15744)
E50Q (p.Glu50Gln) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Specific granule deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- rs993358781
- ClinGen CA257745422
- ClinVar RCV001884764
- ClinVar RCV002555223
- Uncertain significance
- Specific granule deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.42
- MetaLR 0.06
- MetaSVM -1.08
- CADD 23.10
- ClinVar: Uncertain significance (Specific granule deficiency; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)