M121I (p.Met121Ile) variant of EZH2 (Q15910)
M121I (p.Met121Ile) in EZH2 (Q15910) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M121I (p.Met121Ile) variant details
- p.Met121Ile
- cosmic curated COSV10610
- cosmic curated COSV57461
- Ensembl rs2129478049
- NCI-TCGA Cosmic COSV5744
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 0.49
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 4.2e-05)
- Structural context available