N57S (p.Asn57Ser) variant of EZH1 (Q92800)
N57S (p.Asn57Ser) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- ESP rs145586889
- ExAC rs145586889
- TOPMed rs145586889
- gnomAD rs145586889
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available