P13Q (p.Pro13Gln) variant of POLE (Q07864)
P13Q (p.Pro13Gln) 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 0.16 / 1. The record also includes population frequency data and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- rs878854865
- ClinGen CA387373400
- ClinVar RCV003770751
- Ensembl rs878854865
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.03
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.72
- CADD 13.10
- PolyPhen-2 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available