L50S (p.Leu50Ser) variant of ZFHX3 (Zinc finger homeobox protein 3)
L50S (p.Leu50Ser) 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.
L50S (p.Leu50Ser) variant details
- p.Leu50Ser
- ESP rs139894877
- ExAC rs139894877
- TOPMed rs139894877
- gnomAD rs139894877
- Uncertain significance
- not specified
- Missense
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.71
- SIFT 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available