S75R (p.Ser75Arg) variant of EZH1 (Q92800)
S75R (p.Ser75Arg) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S75R (p.Ser75Arg) variant details
- p.Ser75Arg
- 1000Genomes rs200504064
- ExAC rs200504064
- TOPMed rs200504064
- gnomAD rs200504064
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.39
- CADD 19.50
- PolyPhen-2 0.06
- SIFT 0.48
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available