W40* (p.Trp40Ter) variant of POLE (Q07864)
W40* (p.Trp40Ter) 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 0.86 / 1. The record also includes population frequency data and structural context.
W40* (p.Trp40Ter) variant details
- p.Trp40Ter
- Ensembl rs2136034390
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available