N120I (p.Asn120Ile) variant of EZH1 (Q92800)
N120I (p.Asn120Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N120I (p.Asn120Ile) variant details
- p.Asn120Ile
- ExAC rs773344466
- gnomAD rs773344466
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.79
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available