R34Q (p.Arg34Gln) variant of EZH2 (Q15910)
R34Q (p.Arg34Gln) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs2129485367
- ClinGen CA369708419
- cosmic curated COSV10588
- ClinVar RCV002275774
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.56
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available