G14D (p.Gly14Asp) variant of POLE (Q07864)
G14D (p.Gly14Asp) 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.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs1052196814
- ClinGen CA246308259
- ClinVar RCV002327533
- ClinVar RCV003656603
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.08
- CADD 9.62
- PolyPhen-2 0.20
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)