S2T (p.Ser2Thr) variant of TBX3 (T-box transcription factor TBX3)
S2T (p.Ser2Thr) 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 0.40 / 1.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs1869023810
- ClinGen CA386873584
- ClinVar RCV003619992
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.10
- MetaLR 0.28
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.53
- MutPred 0.18
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance