T26S (p.Thr26Ser) variant of POLE (Q07864)
T26S (p.Thr26Ser) 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 0.27 / 1. The record also includes structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- rs182282150
- ClinGen CA387370643
- ClinVar RCV003773411
- 1000Genomes rs182282150
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.16
- EVE 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available