V169I (p.Val169Ile) variant of EZH1 (Q92800)
V169I (p.Val169Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V169I (p.Val169Ile) variant details
- p.Val169Ile
- ExAC rs766116813
- TOPMed rs766116813
- gnomAD rs766116813
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.42
- CADD 21.30
- PolyPhen-2 0.12
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available