Q7* (p.Gln7Ter) variant of SETD2 (Q9BYW2)
Q7* (p.Gln7Ter) in SETD2 (Q9BYW2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs541943893
- ClinGen CA2363807
- ClinVar RCV000623624
- ClinVar RCV000652616
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.024)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.155
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)