R9W (p.Arg9Trp) variant of POLE (Q07864)
R9W (p.Arg9Trp) 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.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs1480510431
- ClinGen CA387373466
- ClinVar RCV002431693
- ClinVar RCV003654972
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- CADD 9.91
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)