S76R (p.Ser76Arg) variant of ZFHX3 (Zinc finger homeobox protein 3)
S76R (p.Ser76Arg) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- ExAC rs543893560
- TOPMed rs543893560
- gnomAD rs543893560
- Uncertain significance
- Missense
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available