P3618Q (p.Pro3618Gln) variant of ZFHX3 (Zinc finger homeobox protein 3)
P3618Q (p.Pro3618Gln) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, idiopathic generalized 20. The record also includes variant effect predictions, population frequency data, and published literature.
P3618Q (p.Pro3618Gln) variant details
- p.Pro3618Gln
- 1000Genomes rs202087317
- ExAC rs202087317
- TOPMed rs202087317
- gnomAD rs202087317
- Pathogenic
- Epilepsy, idiopathic generalized 20
- Missense
- REVEL 0.52
- CADD 26.30
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Pathogenic (Epilepsy, idiopathic generalized 20)
- EBI: Variant of uncertain significance (in EIG20)
- UniProt: Uncertain significance (in EIG20)
- Population evidence available
- Cited in: ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes. (PMID 38508705)