R8P (p.Arg8Pro) variant of POLE (Q07864)
R8P (p.Arg8Pro) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- rs2136052243
- ClinGen CA387373472
- ClinVar RCV003168085
- ClinVar RCV005101002
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.13
- CADD 21.90
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-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)