F79C (p.Phe79Cys) variant of EZH1 (Q92800)
F79C (p.Phe79Cys) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F79C (p.Phe79Cys) variant details
- p.Phe79Cys
- gnomAD rs1319202364
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available