S30* (p.Ser30Ter) variant of POLE (Q07864)
S30* (p.Ser30Ter) in POLE (Q07864) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- rs997586826
- ClinGen CA387370560
- ClinVar RCV003541519
- ClinVar RCV006424857
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)