P132T (p.Pro132Thr) variant of EZH2 (Q15910)
P132T (p.Pro132Thr) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P132T (p.Pro132Thr) variant details
- p.Pro132Thr
- NCI-TCGA Cosmic COSV5745
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57463
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.92
- CADD 23.60
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic (in WVS)
- Population evidence available
- Structural context available