R34C (p.Arg34Cys) variant of POLE (Q07864)
R34C (p.Arg34Cys) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs771051323
- ClinGen CA6894447
- NCI-TCGA Cosmic COSV5768
- cosmic curated COSV57682
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.32
- CADD 29.20
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)