E3D (p.Glu3Asp) variant of EED (Polycomb protein EED)
E3D (p.Glu3Asp) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs773510026
- ExAC rs773510026
- TOPMed rs773510026
- gnomAD rs773510026
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.26
- CADD 26.90
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)