Q3* (p.Gln3Ter) variant of SETD2 (Q9BYW2)
Q3* (p.Gln3Ter) in SETD2 (Q9BYW2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- TOPMed rs1410684482
- gnomAD rs1410684482
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.335