A106E (p.Ala106Glu) variant of EZH1 (Q92800)
A106E (p.Ala106Glu) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A106E (p.Ala106Glu) variant details
- p.Ala106Glu
- gnomAD rs1300525501
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.66
- CADD 24.50
- PolyPhen-2 0.81
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available