T41M (p.Thr41Met) variant of POLE (Q07864)
T41M (p.Thr41Met) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T41M (p.Thr41Met) variant details
- p.Thr41Met
- rs148269473
- ClinGen CA6894440
- ClinVar RCV001544558
- ClinVar RCV004539937
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.18
- AlphaMissense 0.23
- MetaLR 0.01
- MetaSVM -0.98
- CADD 23.10
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)