D23G (p.Asp23Gly) variant of POLE (Q07864)
D23G (p.Asp23Gly) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- rs765898876
- ClinGen CA6894455
- ClinVar RCV000763825
- ClinVar RCV001534278
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- AlphaMissense 0.15
- MetaLR 0.02
- MetaSVM -1.02
- CADD 20.80
- PolyPhen-2 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)