D51Y (p.Asp51Tyr) variant of ZFHX3 (Zinc finger homeobox protein 3)
D51Y (p.Asp51Tyr) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- ESP rs376506658
- ExAC rs376506658
- TOPMed rs376506658
- gnomAD rs376506658
- Uncertain significance
- not specified
- Missense
- REVEL 0.40
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available