S75N (p.Ser75Asn) variant of EZH1 (Q92800)
S75N (p.Ser75Asn) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- 1000Genomes rs530196145
- ExAC rs530196145
- TOPMed rs530196145
- gnomAD rs530196145
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.43
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available