R679C (p.Arg679Cys) variant of EZH2 (Q15910)
R679C (p.Arg679Cys) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Weaver syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R679C (p.Arg679Cys) variant details
- p.Arg679Cys
- rs587783626
- ClinGen CA271512
- NCI-TCGA Cosmic COSV5744
- cosmic curated COSV57449
- Pathogenic
- Weaver syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Weaver syndrome; not provided)
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Structural context available
- Cited in: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. (PMID 22190405)
- Cited in: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. (PMID 26694085)