A68P (p.Ala68Pro) variant of ZFHX3 (Zinc finger homeobox protein 3)
A68P (p.Ala68Pro) 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 specified. The record also includes variant effect predictions and population frequency data.
A68P (p.Ala68Pro) variant details
- p.Ala68Pro
- rs750757698
- ClinGen CA283728131
- ClinVar RCV004279218
- ExAC rs750757698
- Uncertain significance
- not specified
- Missense
- REVEL 0.25
- CADD 18.80
- PolyPhen-2 0.94
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available