R16Q (p.Arg16Gln) variant of EZH2 (Q15910)
R16Q (p.Arg16Gln) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- cosmic curated COSV57449
- TOPMed rs1814390527
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available