D186N (p.Asp186Asn) variant of EZH2 (Q15910)
D186N (p.Asp186Asn) 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 0.54 / 1. The record also includes population frequency data and structural context.
D186N (p.Asp186Asn) variant details
- p.Asp186Asn
- rs1263098237
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- TOPMed rs1263098237
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.39
- CADD 23.30
- PolyPhen-2 0.49
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available