H689Y (p.His689Tyr) variant of EZH2 (Q15910)
H689Y (p.His689Tyr) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
H689Y (p.His689Tyr) variant details
- p.His689Tyr
- rs193921147
- ClinGen CA259759
- cosmic curated COSV57456
- ClinVar RCV000023118
- Pathogenic
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Weaver syndrome)
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Structural context available
- Cited in: Mutations in EZH2 cause Weaver syndrome. (PMID 22177091)
- Cited in: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. (PMID 26694085)