G14V (p.Gly14Val) variant of POLE (Q07864)
G14V (p.Gly14Val) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- rs1052196814
- ClinGen CA387373382
- ClinVar RCV001770821
- ClinVar RCV002329729
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.04
- CADD 11.80
- PolyPhen-2 0.35
- SIFT 0.18
- 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)