R46L (p.Arg46Leu) variant of EZH2 (Q15910)
R46L (p.Arg46Leu) in EZH2 (Q15910) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- cosmic curated COSV10942
- TOPMed rs1333628386
- gnomAD rs1333628386
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.65
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available