Y133D (p.Tyr133Asp) variant of EZH2 (Q15910)
Y133D (p.Tyr133Asp) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Weaver syndrome. The record also includes published literature and structural context.
Y133D (p.Tyr133Asp) variant details
- p.Tyr133Asp
- rs2537200779
- ClinGen CA369721802
- ClinVar RCV003147144
- Uncertain significance
- Weaver syndrome
- Missense
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance (in WVS)
- UniProt: Uncertain significance (in WVS)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)