P193L (p.Pro193Leu) variant of EZH2 (Q15910)
P193L (p.Pro193Leu) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P193L (p.Pro193Leu) variant details
- p.Pro193Leu
- cosmic curated COSV10733
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.22
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available