M41I (p.Met41Ile) variant of EZH2 (Q15910)
M41I (p.Met41Ile) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
M41I (p.Met41Ile) variant details
- p.Met41Ile
- cosmic curated COSV10441
- Ensembl rs2129485059
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.42
- CADD 23.10
- PolyPhen-2 0.55
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available