L116P (p.Leu116Pro) variant of EZH2 (Q15910)
L116P (p.Leu116Pro) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L116P (p.Leu116Pro) variant details
- p.Leu116Pro
- cosmic curated COSV57452
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.87
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available