T8N (p.Thr8Asn) variant of EZH1 (Q92800)
T8N (p.Thr8Asn) 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.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- cosmic curated COSV70549
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.23
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available