R21M (p.Arg21Met) variant of POLE (Q07864)
R21M (p.Arg21Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R21M (p.Arg21Met) variant details
- p.Arg21Met
- TOPMed rs1365779443
- gnomAD rs1365779443
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.07
- CADD 27.60
- PolyPhen-2 0.19
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available