p.Ala30dup variant of SUZ12 (Polycomb protein SUZ12)
p.Ala30dup in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala30dup variant details
- rs1905991672
- gnomAD 17-31937328-T-TCG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 20.90
- Most common in the REMAINING population (allele frequency 7.3e-05)
- Structural context available
- Literature evidence available