F84L (p.Phe84Leu) variant of TBX5 (T-box transcription factor TBX5)
F84L (p.Phe84Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
F84L (p.Phe84Leu) variant details
- p.Phe84Leu
- rs1131691460
- ClinGen CA386862921
- ClinVar RCV000493054
- Ensembl rs1131691460
- Pathogenic
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Aortic valve disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available