A15P (p.Ala15Pro) variant of POLE (Q07864)
A15P (p.Ala15Pro) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs1060500788
- ClinGen CA387373378
- ClinVar RCV001356646
- ClinVar RCV002332621
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.80
- PolyPhen-2 0.20
- SIFT 0.58
- MutPred 0.19
- EBI: Likely benign
- UniProt: Likely benign
- 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)