T41R (p.Thr41Arg) variant of POLE (Q07864)
T41R (p.Thr41Arg) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T41R (p.Thr41Arg) variant details
- p.Thr41Arg
- rs148269473
- ClinGen CA387370227
- ClinVar RCV003541130
- ClinVar RCV005712346
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- AlphaMissense 0.23
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.12
- EVE 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)