S690L (p.Ser690Leu) variant of EZH2 (Q15910)
S690L (p.Ser690Leu) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Weaver syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
S690L (p.Ser690Leu) variant details
- p.Ser690Leu
- rs2129467664
- ClinGen CA369712199
- NCI-TCGA Cosmic COSV5744
- cosmic curated COSV57449
- Pathogenic/Likely pathogenic
- Weaver syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely 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: Mutations in EZH2 cause Weaver syndrome. (PMID 22177091)