Y133C (p.Tyr133Cys) variant of EZH2 (Q15910)
Y133C (p.Tyr133Cys) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
Y133C (p.Tyr133Cys) variant details
- p.Tyr133Cys
- rs1808822115
- ClinGen CA369721796
- cosmic curated COSV10023
- ClinVar RCV001201666
- Pathogenic/Likely pathogenic
- not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.79
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (not provided; Weaver syndrome)
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Structural context available
- Cited in: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. (PMID 26694085)
- Cited in: Mutations in EZH2 cause Weaver syndrome. (PMID 22177091)