R37W (p.Arg37Trp) variant of POLE (Q07864)
R37W (p.Arg37Trp) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- rs753101641
- ClinGen CA6894443
- cosmic curated COSV10026
- ClinVar RCV000650792
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.35
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)