T26N (p.Thr26Asn) variant of POLE (Q07864)
T26N (p.Thr26Asn) 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 0.28 / 1. The record also includes structural context.
T26N (p.Thr26Asn) variant details
- p.Thr26Asn
- rs2043162143
- ClinGen CA387370637
- ClinVar RCV003656369
- TOPMed rs2043162143
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available