S76G (p.Ser76Gly) variant of ZFHX3 (Zinc finger homeobox protein 3)
S76G (p.Ser76Gly) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The record also includes variant effect predictions and population frequency data.
S76G (p.Ser76Gly) variant details
- p.Ser76Gly
- rs543893560
- ClinGen CA8165051
- ClinVar RCV003419448
- ExAC rs543893560
- Conflicting interpretations
- not provided
- Missense
- REVEL 0.08
- CADD 8.54
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available