Q33* (p.Gln33Ter) variant of POLD1 (P28340)
Q33* (p.Gln33Ter) in POLD1 (P28340) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- rs1601189076
- ClinGen CA406970127
- ClinVar RCV001019767
- ClinVar RCV003526030
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 40.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)