G17S (p.Gly17Ser) variant of POLE (Q07864)
G17S (p.Gly17Ser) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs1243827536
- ClinGen CA387373349
- ClinVar RCV003303070
- ClinVar RCV003540494
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.04
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)