T197I (p.Thr197Ile) variant of EZH1 (Q92800)
T197I (p.Thr197Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T197I (p.Thr197Ile) variant details
- p.Thr197Ile
- TOPMed rs1378626218
- gnomAD rs1378626218
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.46
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available