Q39* (p.Gln39Ter) variant of POLE (Q07864)
Q39* (p.Gln39Ter) 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 0.59 / 1. The record also includes population frequency data and structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- Ensembl rs2136034450
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -1.00
- CADD 39.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available