A25V (p.Ala25Val) variant of POLE (Q07864)
A25V (p.Ala25Val) 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 0.30 / 1. The record also includes published literature and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs561834381
- ClinGen CA387370652
- ClinVar RCV003302879
- ClinVar RCV003655114
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.49
- MutPred 0.18
- 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)