N57H (p.Asn57His) variant of EZH1 (Q92800)
N57H (p.Asn57His) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N57H (p.Asn57His) variant details
- p.Asn57His
- TOPMed rs1386478282
- gnomAD rs1386478282
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available