V621M (p.Val621Met) variant of EZH2 (Q15910)
V621M (p.Val621Met) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V621M (p.Val621Met) variant details
- p.Val621Met
- rs587783625
- ClinGen CA271506
- NCI-TCGA Cosmic COSV5745
- cosmic curated COSV57451
- Pathogenic
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Weaver syndrome)
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Population evidence available
- Structural context available
- Cited in: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. (PMID 22190405)
- Cited in: Mutations in EZH2 cause Weaver syndrome. (PMID 22177091)