V123I (p.Val123Ile) variant of EZH1 (Q92800)
V123I (p.Val123Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V123I (p.Val123Ile) variant details
- p.Val123Ile
- ExAC rs780604960
- gnomAD rs780604960
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.48
- CADD 30.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available