R21S (p.Arg21Ser) variant of POLE (Q07864)
R21S (p.Arg21Ser) 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 0.31 / 1. The record also includes structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- rs2136035034
- ClinGen CA387370740
- cosmic curated COSV57673
- ClinVar RCV003670861
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.17
- MetaLR 0.01
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.70
- MutPred 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available