G14A (p.Gly14Ala) variant of POLE (Q07864)
G14A (p.Gly14Ala) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- rs1052196814
- ClinGen CA387373385
- ClinVar RCV003658841
- ClinVar RCV005264357
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0981
- REVEL 0.04
- CADD 5.27
- PolyPhen-2 0.04
- SIFT 0.83
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- 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)