R53* (p.Arg53Ter) variant of SETD2 (Q9BYW2)
R53* (p.Arg53Ter) in SETD2 (Q9BYW2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- TOPMed rs1461772708
- gnomAD rs1461772708
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)