P134A (p.Pro134Ala) variant of TBX3 (T-box transcription factor TBX3)
P134A (p.Pro134Ala) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ulnar-mammary syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1.
P134A (p.Pro134Ala) variant details
- p.Pro134Ala
- rs2121153865
- ClinGen CA386872024
- ClinVar RCV003984944
- Likely pathogenic
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Likely pathogenic (Ulnar-mammary syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic