A25D (p.Ala25Asp) variant of POLE (Q07864)
A25D (p.Ala25Asp) 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.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- rs561834381
- ClinGen CA6894452
- ClinVar RCV003656592
- ClinVar RCV004944900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.90
- CADD 14.50
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)