E45K (p.Glu45Lys) variant of ZFHX3 (Zinc finger homeobox protein 3)
E45K (p.Glu45Lys) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1187392987
- TOPMed rs1187392987
- gnomAD rs1187392987
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.32
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available