Q5* (p.Gln5Ter) variant of SETD2 (Q9BYW2)
Q5* (p.Gln5Ter) in SETD2 (Q9BYW2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs2545707347
- ClinGen CA352512742
- ClinVar RCV004555250
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0662
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)