S27P (p.Ser27Pro) variant of POLE (Q07864)
S27P (p.Ser27Pro) 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 0.27 / 1. The record also includes published literature and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- rs2136034847
- ClinGen CA387370630
- ClinVar RCV003296941
- ClinVar RCV003542480
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.15
- 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)