R31Q (p.Arg31Gln) variant of EZH1 (Q92800)
R31Q (p.Arg31Gln) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- ExAC rs760277636
- gnomAD rs760277636
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.64
- CADD 24.40
- PolyPhen-2 0.32
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available