D16G (p.Asp16Gly) variant of POLE (Q07864)
D16G (p.Asp16Gly) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs1333842547
- ClinGen CA387373361
- ClinVar RCV003540906
- ClinVar RCV005260396
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.00
- 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)