E19Q (p.Glu19Gln) variant of CEBPE (Q15744)
E19Q (p.Glu19Gln) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Specific granule deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- rs200738630
- ClinGen CA7111308
- ClinVar RCV001326433
- ESP rs200738630
- Uncertain significance
- Inborn genetic diseases; Specific granule deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.30
- ClinVar: Uncertain significance (Inborn genetic diseases; Specific granule deficiency; not provid)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available