Q4* (p.Gln4Ter) variant of SUZ12 (Polycomb protein SUZ12)
Q4* (p.Gln4Ter) in SUZ12 (Polycomb protein SUZ12) is a protein-truncating 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.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- cosmic curated COSV59499
- TOPMed rs1299892734
- gnomAD rs1299892734
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 37.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available