E73D (p.Glu73Asp) variant of ZFHX3 (Zinc finger homeobox protein 3)
E73D (p.Glu73Asp) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
E73D (p.Glu73Asp) variant details
- p.Glu73Asp
- ExAC rs767935330
- TOPMed rs767935330
- gnomAD rs767935330
- Uncertain significance
- not provided
- Missense
- REVEL 0.20
- CADD 20.70
- PolyPhen-2 0.85
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available