L129W (p.Leu129Trp) variant of EZH1 (Q92800)
L129W (p.Leu129Trp) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L129W (p.Leu129Trp) variant details
- p.Leu129Trp
- Ensembl rs2053743331
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.85
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available