R18C (p.Arg18Cys) variant of EZH2 (Q15910)
R18C (p.Arg18Cys) 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 0.68 / 1. The record also includes population frequency data and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs771352080
- NCI-TCGA Cosmic COSV5745
- cosmic curated COSV57452
- ExAC rs771352080
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.59
- CADD 28.80
- PolyPhen-2 0.85
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available