P47L (p.Pro47Leu) variant of TBX3 (T-box transcription factor TBX3)
P47L (p.Pro47Leu) 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 0.75 / 1.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs769065791
- NCI-TCGA TCGA novel
- ClinGen CA386873302
- ClinVar RCV003620556
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.44
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.48
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance