E47A (p.Glu47Ala) variant of CEBPE (Q15744)
E47A (p.Glu47Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
E47A (p.Glu47Ala) variant details
- p.Glu47Ala
- rs2048524240
- ClinGen CA388953803
- ClinVar RCV001219493
- Ensembl rs2048524240
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- ESM-1b 0.00
- AlphaMissense 0.62
- MetaLR 0.09
- MetaSVM -1.04
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available