R25Q (p.Arg25Gln) variant of EZH2 (Q15910)
R25Q (p.Arg25Gln) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs2129485373
- ClinGen CA369708479
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57462
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.96
- MetaLR 0.67
- MetaSVM 0.40
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)