S28* (p.Ser28Ter) variant of SUZ12 (Polycomb protein SUZ12)
S28* (p.Ser28Ter) in SUZ12 (Polycomb protein SUZ12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- gnomAD 17-31937329-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available