R27Q (p.Arg27Gln) variant of EZH1 (Q92800)
R27Q (p.Arg27Gln) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- cosmic curated COSV70550
- ExAC rs754966338
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.52
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available