I88F (p.Ile88Phe) variant of EZH1 (Q92800)
I88F (p.Ile88Phe) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I88F (p.Ile88Phe) variant details
- p.Ile88Phe
- ExAC rs780531216
- gnomAD rs780531216
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available