E35D (p.Glu35Asp) variant of CEBPE (Q15744)
E35D (p.Glu35Asp) 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 0.22 / 1. The record also includes structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- rs2140292273
- ClinGen CA388953952
- ClinVar RCV001951725
- Ensembl rs2140292273
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available