Q34* (p.Gln34Ter) variant of DICER1 (Endoribonuclease Dicer)
Q34* (p.Gln34Ter) in DICER1 (Endoribonuclease Dicer) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- rs1555376548
- ClinGen CA390890474
- ClinVar RCV000654373
- ClinVar RCV005821748
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)