Q3L (p.Gln3Leu) variant of EZH2 (Q15910)
Q3L (p.Gln3Leu) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q3L (p.Gln3Leu) variant details
- p.Gln3Leu
- cosmic curated COSV57459
- TOPMed rs1035066688
- gnomAD rs1035066688
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.34
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available