L29I (p.Leu29Ile) variant of EZH1 (Q92800)
L29I (p.Leu29Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L29I (p.Leu29Ile) variant details
- p.Leu29Ile
- ExAC rs753285574
- TOPMed rs753285574
- gnomAD rs753285574
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 0.00034)
- Structural context available