D16H (p.Asp16His) variant of POLE (Q07864)
D16H (p.Asp16His) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- rs1241114520
- ClinGen CA387373364
- ClinVar RCV003540545
- ClinVar RCV004944069
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.04
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.05
- 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)