T145N (p.Thr145Asn) variant of EZH1 (Q92800)
T145N (p.Thr145Asn) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T145N (p.Thr145Asn) variant details
- p.Thr145Asn
- gnomAD rs1252172630
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.54
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available