T26I (p.Thr26Ile) variant of POLE (Q07864)
T26I (p.Thr26Ile) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- rs2043162143
- ClinGen CA387370636
- ClinVar RCV002411753
- ClinVar RCV003313190
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.93
- CADD 18.50
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- 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)