D199G (p.Asp199Gly) variant of EZH1 (Q92800)
D199G (p.Asp199Gly) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D199G (p.Asp199Gly) variant details
- p.Asp199Gly
- TOPMed rs1380880034
- gnomAD rs1380880034
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.33
- CADD 22.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available