T399M (p.Thr399Met) variant of TBX3 (T-box transcription factor TBX3)
T399M (p.Thr399Met) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ulnar-mammary syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
T399M (p.Thr399Met) variant details
- p.Thr399Met
- rs746953122
- ClinGen CA6809987
- ClinVar RCV003619880
- ExAC rs746953122
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.29
- MetaLR 0.80
- MetaSVM -0.06
- PolyPhen-2 0.43
- SIFT 0.09
- MutPred 0.17
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available