P13R (p.Pro13Arg) variant of POLE (Q07864)
P13R (p.Pro13Arg) 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.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- rs878854865
- ClinGen CA387373398
- ClinVar RCV003735672
- Ensembl rs878854865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.72
- PolyPhen-2 0.74
- SIFT 0.47
- MutPred 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available