R16W (p.Arg16Trp) variant of EZH2 (Q15910)
R16W (p.Arg16Trp) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- cosmic curated COSV57448
- gnomAD rs1814391391
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.61
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available