R52K (p.Arg52Lys) variant of EZH2 (Q15910)
R52K (p.Arg52Lys) 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 0.51 / 1. The record also includes population frequency data and structural context.
R52K (p.Arg52Lys) variant details
- p.Arg52Lys
- rs752284693
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.34
- CADD 20.60
- PolyPhen-2 0.42
- SIFT 0.76
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available