E36* (p.Glu36Ter) variant of POLE (Q07864)
E36* (p.Glu36Ter) in POLE (Q07864) 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 0.53 / 1. The record also includes population frequency data and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- cosmic curated COSV57676
- ESP rs370268888
- ExAC rs370268888
- TOPMed rs370268888
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.12
- MetaLR 0.01
- MetaSVM -0.93
- CADD 38.00
- PolyPhen-2 0.01
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available