H187D (p.His187Asp) variant of TBX3 (T-box transcription factor TBX3)
H187D (p.His187Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1.
H187D (p.His187Asp) variant details
- p.His187Asp
- rs767991404
- ClinGen CA386871356
- ClinVar RCV003620275
- ClinVar RCV005235730
- Uncertain significance
- Ulnar-mammary syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Uncertain significance (Ulnar-mammary syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance