I3M (p.Ile3Met) variant of EZH1 (Q92800)
I3M (p.Ile3Met) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I3M (p.Ile3Met) variant details
- p.Ile3Met
- ExAC rs746093812
- TOPMed rs746093812
- gnomAD rs746093812
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.34
- CADD 16.30
- PolyPhen-2 0.28
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available