R25Q (p.Arg25Gln) variant of EZH1 (Q92800)
R25Q (p.Arg25Gln) in EZH1 (Q92800) 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 0.65 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- NCI-TCGA Cosmic COSV7054
- cosmic curated COSV70548
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.55
- CADD 26.70
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available