P403L (p.Pro403Leu) variant of TBX3 (T-box transcription factor TBX3)
P403L (p.Pro403Leu) 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 0.48 / 1.
P403L (p.Pro403Leu) variant details
- p.Pro403Leu
- rs746036481
- ClinGen CA386869512
- ClinVar RCV002796517
- NCI-TCGA TCGA novel
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.12
- MetaLR 0.55
- MetaSVM -0.48
- PolyPhen-2 0.16
- SIFT 0.12
- MutPred 0.22
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance