P115S (p.Pro115Ser) variant of EZH2 (Q15910)
P115S (p.Pro115Ser) 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 0.72 / 1. The record also includes population frequency data and structural context.
P115S (p.Pro115Ser) variant details
- p.Pro115Ser
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.73
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available