P109S (p.Pro109Ser) variant of EZH1 (Q92800)
P109S (p.Pro109Ser) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P109S (p.Pro109Ser) variant details
- p.Pro109Ser
- TOPMed rs1000322448
- gnomAD rs1000322448
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.91
- CADD 26.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available