N211T (p.Asn211Thr) variant of TBX3 (T-box transcription factor TBX3)
N211T (p.Asn211Thr) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data.
N211T (p.Asn211Thr) variant details
- p.Asn211Thr
- rs756408358
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57472
- ExAC rs756408358
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available