V180I (p.Val180Ile) variant of EZH1 (Q92800)
V180I (p.Val180Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V180I (p.Val180Ile) variant details
- p.Val180Ile
- TOPMed rs1015592884
- gnomAD rs1015592884
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.39
- CADD 21.90
- PolyPhen-2 0.30
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available