W15L (p.Trp15Leu) variant of EZH2 (Q15910)
W15L (p.Trp15Leu) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
W15L (p.Trp15Leu) variant details
- p.Trp15Leu
- rs760133156
- ClinGen CA369708548
- ClinVar RCV001270773
- ClinVar RCV005629942
- Uncertain significance
- not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.98
- SIFT 0.03
- MutPred 0.43
- ClinVar: Uncertain significance (not provided; Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)