R34H (p.Arg34His) variant of POLE (Q07864)
R34H (p.Arg34His) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs747005851
- ClinGen CA6894446
- ClinVar RCV003656838
- ClinVar RCV005271138
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.41
- CADD 26.40
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)