M1I (p.Met1Ile) variant of POLE (Q07864)
M1I (p.Met1Ile) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1555231433
- ClinGen CA387373579
- ClinVar RCV002358872
- ClinVar RCV003540036
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- MetaLR 0.01
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.88
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)