F667C (p.Phe667Cys) variant of EZH2 (Q15910)
F667C (p.Phe667Cys) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Weaver syndrome. The record also includes published literature and structural context.
F667C (p.Phe667Cys) variant details
- p.Phe667Cys
- rs2536334836
- ClinGen CA369712541
- ClinVar RCV003444041
- Likely pathogenic
- Weaver syndrome
- Missense
- ClinVar: Likely pathogenic (Weaver syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)