K33T (p.Lys33Thr) variant of POLE (Q07864)
K33T (p.Lys33Thr) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
K33T (p.Lys33Thr) variant details
- p.Lys33Thr
- rs2043161391
- ClinGen CA387370490
- ClinVar RCV002387438
- gnomAD rs2043161391
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.36
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.04
- SIFT 0.17
- EVE 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)