T59N (p.Thr59Asn) variant of TBX20 (T-box transcription factor TBX20)
T59N (p.Thr59Asn) in TBX20 (T-box transcription factor TBX20) 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 0.39 / 1. The record also includes structural context.
T59N (p.Thr59Asn) variant details
- p.Thr59Asn
- rs1489078223
- ClinGen CA367265330
- ClinVar RCV002715007
- TOPMed rs1489078223
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.79
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available