A51T (p.Ala51Thr) variant of TBX3 (T-box transcription factor TBX3)
A51T (p.Ala51Thr) 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 0.56 / 1.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs1565862637
- ClinGen CA386873282
- NCI-TCGA Cosmic COSV9998
- cosmic curated COSV99983
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.40
- MutPred 0.35
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance