E147K (p.Glu147Lys) variant of EZH2 (Q15910)
E147K (p.Glu147Lys) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E147K (p.Glu147Lys) variant details
- p.Glu147Lys
- cosmic curated COSV10520
- Ensembl rs2129476936
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.69
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available