D23V (p.Asp23Val) variant of POLE (Q07864)
D23V (p.Asp23Val) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
D23V (p.Asp23Val) variant details
- p.Asp23Val
- rs765898876
- ClinGen CA387370704
- ClinVar RCV003658825
- ClinVar RCV004942971
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.15
- MetaLR 0.02
- MetaSVM -1.02
- PolyPhen-2 0.55
- SIFT 0.10
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)