T41K (p.Thr41Lys) variant of POLE (Q07864)
T41K (p.Thr41Lys) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T41K (p.Thr41Lys) variant details
- p.Thr41Lys
- rs148269473
- ClinGen CA387370230
- ClinVar RCV003657616
- 1000Genomes rs148269473
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- AlphaMissense 0.23
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.12
- EVE 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available