S75T (p.Ser75Thr) variant of EZH1 (Q92800)
S75T (p.Ser75Thr) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S75T (p.Ser75Thr) variant details
- p.Ser75Thr
- 1000Genomes rs530196145
- ExAC rs530196145
- TOPMed rs530196145
- gnomAD rs530196145
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.27
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.55
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available