P78T (p.Pro78Thr) variant of EZH1 (Q92800)
P78T (p.Pro78Thr) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- 1000Genomes rs146736585
- ESP rs146736585
- ExAC rs146736585
- TOPMed rs146736585
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.30
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available