R741G (p.Arg741Gly) variant of EZH2 (Q15910)
R741G (p.Arg741Gly) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R741G (p.Arg741Gly) variant details
- p.Arg741Gly
- rs587783627
- ClinGen CA271515
- cosmic curated COSV10942
- ClinVar RCV000145978
- Likely pathogenic
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.73
- PolyPhen-2 0.84
- SIFT 0.01
- MutPred 0.31
- ClinVar: Likely pathogenic (Weaver syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)