E740K (p.Glu740Lys) variant of EZH2 (Q15910)
E740K (p.Glu740Lys) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of EZH2-related disorder; not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
E740K (p.Glu740Lys) variant details
- p.Glu740Lys
- rs397515548
- ClinGen CA345008
- NCI-TCGA Cosmic COSV5744
- cosmic curated COSV57447
- Pathogenic/Likely pathogenic
- EZH2-related disorder; not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.59
- PolyPhen-2 0.75
- SIFT 0.00
- MutPred 0.47
- ClinVar: Pathogenic/Likely pathogenic (EZH2-related disorder; not provided; Weaver syndrome)
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Structural context available
- Cited in: Weaver syndrome and defective cortical development: a rare association. (PMID 23239504)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)